Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W2108886647', 'doi': 'https://doi.org/10.1016/j.ajhg.2012.01.018', 'title': 'Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man', 'display_name': 'Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man', 'publication_year': 2012, 'publication_date': '2012-03-01', 'ids': {'openalex': 'https://openalex.org/W2108886647', 'doi': 'https://doi.org/10.1016/j.ajhg.2012.01.018', 'mag': '2108886647', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/27486784', 'pmcid': 'https://www.ncbi.nlm.nih.gov/pmc/articles/4974105'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1016/j.ajhg.2012.01.018', 'pdf_url': 'http://www.cell.com/article/S0002929712000523/pdf', 'source': {'id': 'https://openalex.org/S134425043', 'display_name': 'The American Journal of Human Genetics', 'issn_l': '0002-9297', 'issn': ['0002-9297', '1537-6605'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'hybrid', 'oa_url': 'http://www.cell.com/article/S0002929712000523/pdf', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5005922614', 'display_name': 'Karin Tuschl', 'orcid': 'https://orcid.org/0000-0001-8599-8516'}, 'institutions': [{'id': 'https://openalex.org/I45129253', 'display_name': 'University College London', 'ror': 'https://ror.org/02jx3x895', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I124357947', 'https://openalex.org/I45129253']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Karin Tuschl', 'raw_affiliation_strings': ['Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London, WC1N 1EH, UK'], 'affiliations': [{'raw_affiliation_string': 'Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London, WC1N 1EH, UK', 'institution_ids': ['https://openalex.org/I45129253']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5049060827', 'display_name': 'Peter T. Clayton', 'orcid': 'https://orcid.org/0000-0001-7592-4302'}, 'institutions': [{'id': 'https://openalex.org/I45129253', 'display_name': 'University College London', 'ror': 'https://ror.org/02jx3x895', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I124357947', 'https://openalex.org/I45129253']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Peter\xa0T. Clayton', 'raw_affiliation_strings': ['Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London, WC1N 1EH, UK'], 'affiliations': [{'raw_affiliation_string': 'Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London, WC1N 1EH, UK', 'institution_ids': ['https://openalex.org/I45129253']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5079622488', 'display_name': 'Sídney M. Gospe', 'orcid': 'https://orcid.org/0000-0002-0099-109X'}, 'institutions': [{'id': 'https://openalex.org/I1295499534', 'display_name': "Seattle Children's Hospital", 'ror': 'https://ror.org/01njes783', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1295499534']}, {'id': 'https://openalex.org/I201448701', 'display_name': 'University of Washington', 'ror': 'https://ror.org/00cvxb145', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I201448701']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Sidney\xa0M. Gospe', 'raw_affiliation_strings': ["Departments of Neurology and Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA"], 'affiliations': [{'raw_affiliation_string': "Departments of Neurology and Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA", 'institution_ids': ['https://openalex.org/I1295499534', 'https://openalex.org/I201448701']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5085941088', 'display_name': 'Shamshad Gulab', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2802929321', 'display_name': 'Aga Khan University Hospital', 'ror': 'https://ror.org/05xcx0k58', 'country_code': 'PK', 'type': 'healthcare', 'lineage': ['https://openalex.org/I118185606', 'https://openalex.org/I2802929321', 'https://openalex.org/I4210114929']}], 'countries': ['PK'], 'is_corresponding': False, 'raw_author_name': 'Shamshad Gulab', 'raw_affiliation_strings': ['Department of Pediatric Neurology, Aga Khan University Hospital, Karachi 75800, Pakistan'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatric Neurology, Aga Khan University Hospital, Karachi 75800, Pakistan', 'institution_ids': ['https://openalex.org/I2802929321']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5036391705', 'display_name': 'Shahnaz Ibrahim', 'orcid': 'https://orcid.org/0000-0003-4018-6594'}, 'institutions': [{'id': 'https://openalex.org/I2802929321', 'display_name': 'Aga Khan University Hospital', 'ror': 'https://ror.org/05xcx0k58', 'country_code': 'PK', 'type': 'healthcare', 'lineage': ['https://openalex.org/I118185606', 'https://openalex.org/I2802929321', 'https://openalex.org/I4210114929']}], 'countries': ['PK'], 'is_corresponding': False, 'raw_author_name': 'Shahnaz Ibrahim', 'raw_affiliation_strings': ['Department of Pediatric Neurology, Aga Khan University Hospital, Karachi 75800, Pakistan'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatric Neurology, Aga Khan University Hospital, Karachi 75800, Pakistan', 'institution_ids': ['https://openalex.org/I2802929321']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5034291730', 'display_name': 'Pratibha Singhi', 'orcid': 'https://orcid.org/0000-0002-3238-3670'}, 'institutions': [{'id': 'https://openalex.org/I45294948', 'display_name': 'Post Graduate Institute of Medical Education and Research', 'ror': 'https://ror.org/009nfym65', 'country_code': 'IN', 'type': 'education', 'lineage': ['https://openalex.org/I45294948']}], 'countries': ['IN'], 'is_corresponding': False, 'raw_author_name': 'Pratibha Singhi', 'raw_affiliation_strings': ['Department of Pediatrics Postgraduate Institute of Medical Education and Research, Chandigarh 160012, India.'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics Postgraduate Institute of Medical Education and Research, Chandigarh 160012, India.', 'institution_ids': ['https://openalex.org/I45294948']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5045443218', 'display_name': 'Roosy Aulakh', 'orcid': 'https://orcid.org/0000-0002-7715-5268'}, 'institutions': [{'id': 'https://openalex.org/I129862065', 'display_name': 'Government Medical College', 'ror': 'https://ror.org/007fenw03', 'country_code': 'IN', 'type': 'education', 'lineage': ['https://openalex.org/I129862065']}], 'countries': ['IN'], 'is_corresponding': False, 'raw_author_name': 'Roosy Aulakh', 'raw_affiliation_strings': ['Department of Pediatrics, Government Medical College and Hospital, Chandigarh, 160030, India.'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Government Medical College and Hospital, Chandigarh, 160030, India.', 'institution_ids': ['https://openalex.org/I129862065']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5077593905', 'display_name': 'Reinaldo Teixeira Ribeiro', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I88273585', 'display_name': 'Universidade Federal de São Paulo', 'ror': 'https://ror.org/02k5swt12', 'country_code': 'BR', 'type': 'education', 'lineage': ['https://openalex.org/I88273585']}], 'countries': ['BR'], 'is_corresponding': False, 'raw_author_name': 'Reinaldo\xa0T. Ribeiro', 'raw_affiliation_strings': ['Department of Neurology, Federal University of Sao Paulo, Sao Paulo 04038-030, Brazil'], 'affiliations': [{'raw_affiliation_string': 'Department of Neurology, Federal University of Sao Paulo, Sao Paulo 04038-030, Brazil', 'institution_ids': ['https://openalex.org/I88273585']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5038364226', 'display_name': 'Orlando Graziani Póvoas Barsottini', 'orcid': 'https://orcid.org/0000-0002-0107-0831'}, 'institutions': [{'id': 'https://openalex.org/I88273585', 'display_name': 'Universidade Federal de São Paulo', 'ror': 'https://ror.org/02k5swt12', 'country_code': 'BR', 'type': 'education', 'lineage': ['https://openalex.org/I88273585']}], 'countries': ['BR'], 'is_corresponding': False, 'raw_author_name': 'Orlando\xa0G. Barsottini', 'raw_affiliation_strings': ['Department of Neurology, Federal University of Sao Paulo, Sao Paulo 04038-030, Brazil'], 'affiliations': [{'raw_affiliation_string': 'Department of Neurology, Federal University of Sao Paulo, Sao Paulo 04038-030, Brazil', 'institution_ids': ['https://openalex.org/I88273585']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5016900292', 'display_name': 'Maha S. Zaki', 'orcid': 'https://orcid.org/0000-0001-7840-0002'}, 'institutions': [{'id': 'https://openalex.org/I4210143517', 'display_name': 'National Water Research Center', 'ror': 'https://ror.org/04320xd69', 'country_code': 'EG', 'type': 'facility', 'lineage': ['https://openalex.org/I180606324', 'https://openalex.org/I4210143517']}], 'countries': ['EG'], 'is_corresponding': False, 'raw_author_name': 'Maha\xa0S. Zaki', 'raw_affiliation_strings': ['Clinical Genetics Department, National Research Center, Cairo 12311, Egypt'], 'affiliations': [{'raw_affiliation_string': 'Clinical Genetics Department, National Research Center, Cairo 12311, Egypt', 'institution_ids': ['https://openalex.org/I4210143517']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5070621444', 'display_name': 'Maria Luz Del Rosario', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210116402', 'display_name': "St. Luke's Medical Center", 'ror': 'https://ror.org/02h4kdd20', 'country_code': 'PH', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210116402']}], 'countries': ['PH'], 'is_corresponding': False, 'raw_author_name': 'Maria\xa0Luz Del\xa0Rosario', 'raw_affiliation_strings': ['Department of Pediatrics, St. Lukes Medical Center, Quezon City 1112, Philippines'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, St. Lukes Medical Center, Quezon City 1112, Philippines', 'institution_ids': ['https://openalex.org/I4210116402']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5043700673', 'display_name': 'Sarah Dyack', 'orcid': 'https://orcid.org/0000-0003-4550-8548'}, 'institutions': [{'id': 'https://openalex.org/I2800394539', 'display_name': 'Izaak Walton Killam Health Centre', 'ror': 'https://ror.org/0064zg438', 'country_code': 'CA', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2800394539']}], 'countries': ['CA'], 'is_corresponding': False, 'raw_author_name': 'Sarah Dyack', 'raw_affiliation_strings': ['Department of Pediatrics, Izaak Walton Killam Health Centre, Halifax, NS B3K 6R8, Canada'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Izaak Walton Killam Health Centre, Halifax, NS B3K 6R8, Canada', 'institution_ids': ['https://openalex.org/I2800394539']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5103617855', 'display_name': 'Victoria Price', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2800394539', 'display_name': 'Izaak Walton Killam Health Centre', 'ror': 'https://ror.org/0064zg438', 'country_code': 'CA', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2800394539']}], 'countries': ['CA'], 'is_corresponding': False, 'raw_author_name': 'Victoria Price', 'raw_affiliation_strings': ['Department of Pediatrics, Izaak Walton Killam Health Centre, Halifax, NS B3K 6R8, Canada'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Izaak Walton Killam Health Centre, Halifax, NS B3K 6R8, Canada', 'institution_ids': ['https://openalex.org/I2800394539']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5088837764', 'display_name': 'Andrea L. Rideout', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2800394539', 'display_name': 'Izaak Walton Killam Health Centre', 'ror': 'https://ror.org/0064zg438', 'country_code': 'CA', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2800394539']}], 'countries': ['CA'], 'is_corresponding': False, 'raw_author_name': 'Andrea Rideout', 'raw_affiliation_strings': ['Department of Pediatrics, Izaak Walton Killam Health Centre, Halifax, NS B3K 6R8, Canada'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Izaak Walton Killam Health Centre, Halifax, NS B3K 6R8, Canada', 'institution_ids': ['https://openalex.org/I2800394539']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5087624977', 'display_name': 'Ken Gordon', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2800394539', 'display_name': 'Izaak Walton Killam Health Centre', 'ror': 'https://ror.org/0064zg438', 'country_code': 'CA', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2800394539']}], 'countries': ['CA'], 'is_corresponding': False, 'raw_author_name': 'Kevin Gordon', 'raw_affiliation_strings': ['Department of Pediatrics, Izaak Walton Killam Health Centre, Halifax, NS B3K 6R8, Canada'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Izaak Walton Killam Health Centre, Halifax, NS B3K 6R8, Canada', 'institution_ids': ['https://openalex.org/I2800394539']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5045187784', 'display_name': 'Ron A. Wevers', 'orcid': 'https://orcid.org/0000-0003-2278-9746'}, 'institutions': [{'id': 'https://openalex.org/I145872427', 'display_name': 'Radboud University Nijmegen', 'ror': 'https://ror.org/016xsfp80', 'country_code': 'NL', 'type': 'education', 'lineage': ['https://openalex.org/I145872427']}, {'id': 'https://openalex.org/I2802934949', 'display_name': 'Radboud University Medical Center', 'ror': 'https://ror.org/05wg1m734', 'country_code': 'NL', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802934949']}], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'Ron\xa0A. Wevers', 'raw_affiliation_strings': ['Department of Laboratory Medicine, Radboud University Nijmegen Medical Centre, Nijmegen 6525 GA, The Netherlands'], 'affiliations': [{'raw_affiliation_string': 'Department of Laboratory Medicine, Radboud University Nijmegen Medical Centre, Nijmegen 6525 GA, The Netherlands', 'institution_ids': ['https://openalex.org/I145872427', 'https://openalex.org/I2802934949']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5083530806', 'display_name': 'W.K. Chong', 'orcid': 'https://orcid.org/0000-0002-4335-3864'}, 'institutions': [{'id': 'https://openalex.org/I45129253', 'display_name': 'University College London', 'ror': 'https://ror.org/02jx3x895', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I124357947', 'https://openalex.org/I45129253']}, {'id': 'https://openalex.org/I2800129641', 'display_name': 'Great Ormond Street Hospital', 'ror': 'https://ror.org/00zn2c847', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2800129641', 'https://openalex.org/I2800349819']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'W.K. “Kling”\xa0Chong', 'raw_affiliation_strings': ['Department of Radiology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK'], 'affiliations': [{'raw_affiliation_string': 'Department of Radiology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK', 'institution_ids': ['https://openalex.org/I45129253', 'https://openalex.org/I2800129641']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5067815566', 'display_name': 'Philippa B. Mills', 'orcid': 'https://orcid.org/0000-0002-9704-1268'}, 'institutions': [{'id': 'https://openalex.org/I45129253', 'display_name': 'University College London', 'ror': 'https://ror.org/02jx3x895', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I124357947', 'https://openalex.org/I45129253']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Philippa\xa0B. Mills', 'raw_affiliation_strings': ['Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London, WC1N 1EH, UK'], 'affiliations': [{'raw_affiliation_string': 'Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London, WC1N 1EH, UK', 'institution_ids': ['https://openalex.org/I45129253']}]}], 'countries_distinct_count': 9, 'institutions_distinct_count': 13, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 5150, 'currency': 'USD', 'value_usd': 5150, 'provenance': 'doaj'}, 'apc_paid': {'value': 5150, 'currency': 'USD', 'value_usd': 5150, 'provenance': 'doaj'}, 'fwci': 20.828, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 340, 'citation_normalized_percentile': {'value': 0.999894, 'is_in_top_1_percent': True, 'is_in_top_10_percent': True}, 'cited_by_percentile_year': {'min': 99, 'max': 100}, 'biblio': {'volume': '90', 'issue': '3', 'first_page': '457', 'last_page': '466'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10915', 'display_name': 'Copper and Zinc in Health and Disease', 'score': 0.9997, 'subfield': {'id': 'https://openalex.org/subfields/2916', 'display_name': 'Nutrition and Dietetics'}, 'field': {'id': 'https://openalex.org/fields/29', 'display_name': 'Nursing'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, 'topics': [{'id': 'https://openalex.org/T10915', 'display_name': 'Copper and Zinc in Health and Disease', 'score': 0.9997, 'subfield': {'id': 'https://openalex.org/subfields/2916', 'display_name': 'Nutrition and Dietetics'}, 'field': {'id': 'https://openalex.org/fields/29', 'display_name': 'Nursing'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, {'id': 'https://openalex.org/T10790', 'display_name': 'Metal-Induced Oxidative Stress and Health Effects', 'score': 0.9966, 'subfield': {'id': 'https://openalex.org/subfields/2307', 'display_name': 'Health, Toxicology and Mutagenesis'}, 'field': {'id': 'https://openalex.org/fields/23', 'display_name': 'Environmental Science'}, 'domain': {'id': 'https://openalex.org/domains/3', 'display_name': 'Physical Sciences'}}, {'id': 'https://openalex.org/T10452', 'display_name': 'Regulation of Iron Metabolism and Anemia', 'score': 0.992, 'subfield': {'id': 'https://openalex.org/subfields/2720', 'display_name': 'Hematology'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/manganese-neurotoxicity', 'display_name': 'Manganese Neurotoxicity', 'score': 0.55757}, {'id': 'https://openalex.org/keywords/wild-type', 'display_name': 'Wild type', 'score': 0.46051255}, {'id': 'https://openalex.org/keywords/nonsense-mutation', 'display_name': 'Nonsense mutation', 'score': 0.4411007}], 'concepts': [{'id': 'https://openalex.org/C185592680', 'wikidata': 'https://www.wikidata.org/wiki/Q2329', 'display_name': 'Chemistry', 'level': 0, 'score': 0.62676513}, {'id': 'https://openalex.org/C528890316', 'wikidata': 'https://www.wikidata.org/wiki/Q731', 'display_name': 'Manganese', 'level': 2, 'score': 0.6045487}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.508408}, {'id': 'https://openalex.org/C149011108', 'wikidata': 'https://www.wikidata.org/wiki/Q652985', 'display_name': 'Transporter', 'level': 3, 'score': 0.4963594}, {'id': 'https://openalex.org/C75563809', 'wikidata': 'https://www.wikidata.org/wiki/Q2656896', 'display_name': 'Missense mutation', 'level': 4, 'score': 0.4842005}, {'id': 'https://openalex.org/C207583985', 'wikidata': 'https://www.wikidata.org/wiki/Q128723', 'display_name': 'Wild type', 'level': 4, 'score': 0.46051255}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.44354254}, {'id': 'https://openalex.org/C96777560', 'wikidata': 'https://www.wikidata.org/wiki/Q518638', 'display_name': 'Nonsense mutation', 'level': 5, 'score': 0.4411007}, {'id': 'https://openalex.org/C143065580', 'wikidata': 'https://www.wikidata.org/wiki/Q3285695', 'display_name': 'Mutant', 'level': 3, 'score': 0.4205522}, {'id': 'https://openalex.org/C55493867', 'wikidata': 'https://www.wikidata.org/wiki/Q7094', 'display_name': 'Biochemistry', 'level': 1, 'score': 0.33344874}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.29594538}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.24195841}, {'id': 'https://openalex.org/C178790620', 'wikidata': 'https://www.wikidata.org/wiki/Q11351', 'display_name': 'Organic chemistry', 'level': 1, 'score': 0.0}], 'mesh': [{'descriptor_ui': 'D027682', 'descriptor_name': 'Cation Transport Proteins', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D018389', 'descriptor_name': 'Codon, Nonsense', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D008345', 'descriptor_name': 'Manganese', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': True}, {'descriptor_ui': 'D020149', 'descriptor_name': 'Manganese Poisoning', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D008659', 'descriptor_name': 'Metabolic Diseases', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D008659', 'descriptor_name': 'Metabolic Diseases', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': True}, {'descriptor_ui': 'D020125', 'descriptor_name': 'Mutation, Missense', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D000293', 'descriptor_name': 'Adolescent', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000328', 'descriptor_name': 'Adult', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000595', 'descriptor_name': 'Amino Acid Sequence', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001921', 'descriptor_name': 'Brain', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': False}, {'descriptor_ui': 'D001921', 'descriptor_name': 'Brain', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D027682', 'descriptor_name': 'Cation Transport Proteins', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': False}, {'descriptor_ui': 'D027682', 'descriptor_name': 'Cation Transport Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002648', 'descriptor_name': 'Child', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002675', 'descriptor_name': 'Child, Preschool', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002874', 'descriptor_name': 'Chromosome Mapping', 'qualifier_ui': 'Q000379', 'qualifier_name': 'methods', 'is_major_topic': False}, {'descriptor_ui': 'D002874', 'descriptor_name': 'Chromosome Mapping', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D020022', 'descriptor_name': 'Genetic Predisposition to Disease', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008099', 'descriptor_name': 'Liver', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': False}, {'descriptor_ui': 'D008099', 'descriptor_name': 'Liver', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008297', 'descriptor_name': 'Male', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008345', 'descriptor_name': 'Manganese', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D020149', 'descriptor_name': 'Manganese Poisoning', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': False}, {'descriptor_ui': 'D020149', 'descriptor_name': 'Manganese Poisoning', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008659', 'descriptor_name': 'Metabolic Diseases', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008969', 'descriptor_name': 'Molecular Sequence Data', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012441', 'descriptor_name': 'Saccharomyces cerevisiae', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D012441', 'descriptor_name': 'Saccharomyces cerevisiae', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D016415', 'descriptor_name': 'Sequence Alignment', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017422', 'descriptor_name': 'Sequence Analysis, DNA', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D055815', 'descriptor_name': 'Young Adult', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000075703', 'descriptor_name': 'Zinc Transporter 8', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 5, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1016/j.ajhg.2012.01.018', 'pdf_url': 'http://www.cell.com/article/S0002929712000523/pdf', 'source': {'id': 'https://openalex.org/S134425043', 'display_name': 'The American Journal of Human Genetics', 'issn_l': '0002-9297', 'issn': ['0002-9297', '1537-6605'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://ecommons.aku.edu/pakistan_fhs_mc_med_neurol/77', 'pdf_url': 'https://ecommons.aku.edu/cgi/viewcontent.cgi?article=1076&context=pakistan_fhs_mc_med_neurol', 'source': {'id': 'https://openalex.org/S4377196301', 'display_name': 'eCommons - AKU (Aga Khan University)', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I118185606', 'host_organization_name': 'Aga Khan University', 'host_organization_lineage': ['https://openalex.org/I118185606'], 'host_organization_lineage_names': ['Aga Khan University'], 'type': 'repository'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://europepmc.org/articles/pmc3309187', 'pdf_url': 'https://europepmc.org/articles/pmc3309187?pdf=render', 'source': {'id': 'https://openalex.org/S4306400806', 'display_name': 'Europe PMC (PubMed Central)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1303153112', 'host_organization_name': 'European Bioinformatics Institute', 'host_organization_lineage': ['https://openalex.org/I1303153112'], 'host_organization_lineage_names': ['European Bioinformatics Institute'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3309187', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S2764455111', 'display_name': 'PubMed Central', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/22341972', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1016/j.ajhg.2012.01.018', 'pdf_url': 'http://www.cell.com/article/S0002929712000523/pdf', 'source': {'id': 'https://openalex.org/S134425043', 'display_name': 'The American Journal of Human Genetics', 'issn_l': '0002-9297', 'issn': ['0002-9297', '1537-6605'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 59, 'referenced_works': ['https://openalex.org/W1546288213', 'https://openalex.org/W1601604062', 'https://openalex.org/W1612987016', 'https://openalex.org/W1839658873', 'https://openalex.org/W1863826824', 'https://openalex.org/W1963498758', 'https://openalex.org/W1968956242', 'https://openalex.org/W1975068341', 'https://openalex.org/W1976133626', 'https://openalex.org/W1981234662', 'https://openalex.org/W1982874694', 'https://openalex.org/W1982995811', 'https://openalex.org/W1996119078', 'https://openalex.org/W1997061704', 'https://openalex.org/W1998271947', 'https://openalex.org/W2000304385', 'https://openalex.org/W2002000465', 'https://openalex.org/W2002837323', 'https://openalex.org/W2007175737', 'https://openalex.org/W2008686677', 'https://openalex.org/W2009067945', 'https://openalex.org/W2014721161', 'https://openalex.org/W2021505809', 'https://openalex.org/W2022871657', 'https://openalex.org/W2025890688', 'https://openalex.org/W2028680240', 'https://openalex.org/W2030348183', 'https://openalex.org/W2032648343', 'https://openalex.org/W2034413100', 'https://openalex.org/W2043286349', 'https://openalex.org/W2044351038', 'https://openalex.org/W2048960021', 'https://openalex.org/W2052372263', 'https://openalex.org/W2057971723', 'https://openalex.org/W2058767683', 'https://openalex.org/W2062512166', 'https://openalex.org/W2067634484', 'https://openalex.org/W2070782607', 'https://openalex.org/W2073909766', 'https://openalex.org/W2076005050', 'https://openalex.org/W2081671164', 'https://openalex.org/W2084120008', 'https://openalex.org/W2087624325', 'https://openalex.org/W2088878246', 'https://openalex.org/W2097382368', 'https://openalex.org/W2115477133', 'https://openalex.org/W2117393206', 'https://openalex.org/W2118584290', 'https://openalex.org/W2129940110', 'https://openalex.org/W2142434482', 'https://openalex.org/W2144875128', 'https://openalex.org/W2153209303', 'https://openalex.org/W2286436038', 'https://openalex.org/W2290851825', 'https://openalex.org/W2400633094', 'https://openalex.org/W2426293561', 'https://openalex.org/W4210994720', 'https://openalex.org/W4211081379', 'https://openalex.org/W819310579'], 'related_works': ['https://openalex.org/W2568276637', 'https://openalex.org/W2146172507', 'https://openalex.org/W2108065215', 'https://openalex.org/W2092849118', 'https://openalex.org/W2066798671', 'https://openalex.org/W2054591750', 'https://openalex.org/W2049429115', 'https://openalex.org/W2040963109', 'https://openalex.org/W1999949036', 'https://openalex.org/W1974547943'], 'abstract_inverted_index': {'Environmental': [0, 189], 'manganese': [1, 190], '(Mn)': [2, 191], 'toxicity': [3, 192], 'causes': [4, 167, 193, 356], 'an': [5, 176, 194, 365], 'extrapyramidal,': [6, 195], 'parkinsonian-type': [7, 196], 'movement': [8, 197], 'disorder': [9, 198], 'with': [10, 199], 'characteristic': [11, 200], 'magnetic': [12, 201], 'resonance': [13, 202], 'images': [14, 203], 'of': [15, 32, 47, 61, 83, 90, 124, 204, 221, 236, 250, 272, 279, 313], 'Mn': [16, 43, 114, 120, 138, 160, 168, 181, 205, 232, 303, 309, 327, 349, 357, 370], 'accumulation': [17, 169, 206, 358], 'in': [18, 39, 57, 68, 77, 95, 105, 112, 119, 133, 162, 170, 186, 207, 228, 246, 257, 266, 284, 294, 301, 308, 322, 351, 359, 375], 'the': [19, 54, 84, 88, 96, 106, 208, 243, 273, 277, 285, 295], 'basal': [20, 209], 'ganglia.': [21, 210], 'We': [22, 211], 'have': [23, 212], 'recently': [24, 213], 'reported': [25, 214], 'a': [26, 147, 159, 215, 336, 348], 'suspected': [27, 216], 'autosomal': [28, 217], 'recessively': [29, 218], 'inherited': [30, 59, 219, 248], 'syndrome': [31, 220], 'hepatic': [33, 222], 'cirrhosis,': [34, 223], 'dystonia,': [35, 224], 'polycythemia,': [36, 225], 'and': [37, 71, 87, 128, 172, 183, 226, 260, 276, 317, 361, 372], 'hypermanganesemia': [38, 227], 'cases': [40, 229], 'without': [41, 230], 'environmental': [42, 231], 'exposure.': [44, 233], 'Whole-genome': [45, 234], 'mapping': [46, 235], 'two': [48, 237], 'consanguineous': [49, 238], 'families': [50, 239], 'identified': [51, 76, 240, 265], 'SLC30A10': [52, 104, 134, 141, 156, 241, 293, 323, 330, 345], 'as': [53, 158, 242, 347], 'affected': [55, 79, 244, 268], 'gene': [56, 64, 245, 253], 'this': [58, 151, 247, 340], 'type': [60, 249], 'hypermanganesemia.': [62, 251], 'This': [63, 174, 252, 363], 'was': [65, 254], 'subsequently': [66, 255], 'sequenced': [67, 256], 'eight': [69, 258], 'families,': [70, 259], 'homozygous': [72, 261], 'sequence': [73, 91, 262, 280], 'changes': [74, 92, 263, 281], 'were': [75, 93, 264, 282], 'all': [78, 267], 'individuals.': [80, 269], 'The': [81, 122, 270, 311], 'function': [82, 271], 'wild-type': [85, 103, 274, 292], 'protein': [86, 275], 'effect': [89, 278], 'studied': [94, 283], 'manganese-sensitive': [97, 286], 'yeast': [98, 108, 287, 297], 'strain': [99, 109, 288, 298], 'Δpmr1.': [100, 289], 'Expressing': [101, 290], 'human': [102, 291], 'Δpmr1': [107, 296], 'rescued': [110, 299], 'growth': [111, 300], 'high': [113, 302], 'conditions,': [115, 304], 'confirming': [116, 305], 'its': [117, 184, 306, 373], 'role': [118, 185, 307, 374], 'transport.': [121, 310], 'presence': [123, 312], 'missense': [125, 314], '(c.266T>C': [126, 315], '[p.Leu89Pro])': [127, 316], 'nonsense': [129, 318], '(c.585del': [130, 319], '[p.Thr196Profs∗17])': [131, 320], 'mutations': [132, 321], 'failed': [135, 324], 'to': [136, 145, 325, 334], 'restore': [137, 326], 'resistance.': [139, 328], 'Previously,': [140, 329], 'had': [142, 331], 'been': [143, 332], 'presumed': [144, 333], 'be': [146, 335], 'zinc': [148, 337], 'transporter.': [149, 338], 'However,': [150, 339], 'work': [152, 341], 'has': [153, 342], 'confirmed': [154, 343], 'that': [155, 344], 'functions': [157, 346], 'transporter': [161, 350], 'humans': [163, 352], 'that,': [164, 353], 'when': [165, 354], 'defective,': [166, 355], 'liver': [171, 360], 'brain.': [173, 362], 'is': [175, 364], 'important': [177, 366], 'step': [178, 367], 'toward': [179, 368], 'understanding': [180, 369], 'transport': [182, 371], 'neurodegenerative': [187, 376], 'processes.': [188, 377]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2108886647', 'counts_by_year': [{'year': 2024, 'cited_by_count': 20}, {'year': 2023, 'cited_by_count': 21}, {'year': 2022, 'cited_by_count': 32}, {'year': 2021, 'cited_by_count': 26}, {'year': 2020, 'cited_by_count': 29}, {'year': 2019, 'cited_by_count': 41}, {'year': 2018, 'cited_by_count': 30}, {'year': 2017, 'cited_by_count': 26}, {'year': 2016, 'cited_by_count': 30}, {'year': 2015, 'cited_by_count': 26}, {'year': 2014, 'cited_by_count': 28}, {'year': 2013, 'cited_by_count': 19}, {'year': 2012, 'cited_by_count': 9}], 'updated_date': '2024-09-13T05:02:57.522872', 'created_date': '2016-06-24'}