Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W3011357560', 'doi': 'https://doi.org/10.1002/mgg3.1220', 'title': 'Congenital dyserythropoiesis anemia type Ia with a novel <i>CDAN1</i> mutation diagnosed by whole exome sequencing', 'display_name': 'Congenital dyserythropoiesis anemia type Ia with a novel <i>CDAN1</i> mutation diagnosed by whole exome sequencing', 'publication_year': 2020, 'publication_date': '2020-03-11', 'ids': {'openalex': 'https://openalex.org/W3011357560', 'doi': 'https://doi.org/10.1002/mgg3.1220', 'mag': '3011357560', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/32160409', 'pmcid': 'https://www.ncbi.nlm.nih.gov/pmc/articles/7216794'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1002/mgg3.1220', 'pdf_url': 'https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.1220', 'source': {'id': 'https://openalex.org/S2764373787', 'display_name': 'Molecular Genetics & Genomic Medicine', 'issn_l': '2324-9269', 'issn': ['2324-9269'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320595', 'host_organization_name': 'Wiley', 'host_organization_lineage': ['https://openalex.org/P4310320595'], 'host_organization_lineage_names': ['Wiley'], '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', 'doaj', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'gold', 'oa_url': 'https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.1220', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5058609065', 'display_name': 'Pei‐Chin Lin', 'orcid': 'https://orcid.org/0000-0002-3371-3010'}, 'institutions': [{'id': 'https://openalex.org/I152743029', 'display_name': 'Kaohsiung Medical University', 'ror': 'https://ror.org/03gk81f96', 'country_code': 'TW', 'type': 'education', 'lineage': ['https://openalex.org/I152743029']}, {'id': 'https://openalex.org/I2802587341', 'display_name': 'Kaohsiung Medical University Chung-Ho Memorial Hospital', 'ror': 'https://ror.org/02xmkec90', 'country_code': 'TW', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802587341']}], 'countries': ['TW'], 'is_corresponding': False, 'raw_author_name': 'Pei‐Chin Lin', 'raw_affiliation_strings': ['Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan', 'Department of Pediatrics, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan', 'Division of Hematology and Oncology, Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan', 'institution_ids': ['https://openalex.org/I152743029']}, {'raw_affiliation_string': 'Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan', 'institution_ids': ['https://openalex.org/I152743029', 'https://openalex.org/I2802587341']}, {'raw_affiliation_string': 'Division of Hematology and Oncology, Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan', 'institution_ids': ['https://openalex.org/I152743029', 'https://openalex.org/I2802587341']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5079849771', 'display_name': 'Chao‐Neng Cheng', 'orcid': 'https://orcid.org/0000-0003-3487-9511'}, 'institutions': [{'id': 'https://openalex.org/I4210158999', 'display_name': 'National Cheng Kung University Hospital', 'ror': 'https://ror.org/04zx3rq17', 'country_code': 'TW', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210158999']}], 'countries': ['TW'], 'is_corresponding': False, 'raw_author_name': 'Chao‐Neng Cheng', 'raw_affiliation_strings': ['Division of Hematology and Oncology, Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan'], 'affiliations': [{'raw_affiliation_string': 'Division of Hematology and Oncology, Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan', 'institution_ids': ['https://openalex.org/I4210158999']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5000615612', 'display_name': 'Hsi‐Yuan Huang', 'orcid': 'https://orcid.org/0000-0001-8453-4939'}, 'institutions': [{'id': 'https://openalex.org/I4210126829', 'display_name': 'China Medical University Hospital', 'ror': 'https://ror.org/0368s4g32', 'country_code': 'TW', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210126829']}, {'id': 'https://openalex.org/I184693016', 'display_name': 'China Medical University', 'ror': 'https://ror.org/00v408z34', 'country_code': 'TW', 'type': 'education', 'lineage': ['https://openalex.org/I184693016']}], 'countries': ['TW'], 'is_corresponding': False, 'raw_author_name': 'Hsi‐Yuan Huang', 'raw_affiliation_strings': ['Center for Precision Medicine, China Medical University Hospital, Taichung, Taiwan', 'Department of Laboratory Medicine, China Medical University Hospital, China Medical University, Taichung, Taiwan'], 'affiliations': [{'raw_affiliation_string': 'Center for Precision Medicine, China Medical University Hospital, Taichung, Taiwan', 'institution_ids': ['https://openalex.org/I4210126829', 'https://openalex.org/I184693016']}, {'raw_affiliation_string': 'Department of Laboratory Medicine, China Medical University Hospital, China Medical University, Taichung, Taiwan', 'institution_ids': ['https://openalex.org/I4210126829', 'https://openalex.org/I184693016']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5031770711', 'display_name': 'Yu‐Hsin Tseng', 'orcid': 'https://orcid.org/0000-0002-2558-2209'}, 'institutions': [{'id': 'https://openalex.org/I2802587341', 'display_name': 'Kaohsiung Medical University Chung-Ho Memorial Hospital', 'ror': 'https://ror.org/02xmkec90', 'country_code': 'TW', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802587341']}, {'id': 'https://openalex.org/I152743029', 'display_name': 'Kaohsiung Medical University', 'ror': 'https://ror.org/03gk81f96', 'country_code': 'TW', 'type': 'education', 'lineage': ['https://openalex.org/I152743029']}], 'countries': ['TW'], 'is_corresponding': False, 'raw_author_name': 'Yu‐Hsin Tseng', 'raw_affiliation_strings': ['Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan', 'institution_ids': ['https://openalex.org/I2802587341', 'https://openalex.org/I152743029']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5029873147', 'display_name': 'Ya‐Sian Chang', 'orcid': 'https://orcid.org/0000-0003-0444-2941'}, 'institutions': [{'id': 'https://openalex.org/I4210126829', 'display_name': 'China Medical University Hospital', 'ror': 'https://ror.org/0368s4g32', 'country_code': 'TW', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210126829']}, {'id': 'https://openalex.org/I184693016', 'display_name': 'China Medical University', 'ror': 'https://ror.org/00v408z34', 'country_code': 'TW', 'type': 'education', 'lineage': ['https://openalex.org/I184693016']}, {'id': 'https://openalex.org/I148366613', 'display_name': 'National Yang Ming Chiao Tung University', 'ror': 'https://ror.org/00se2k293', 'country_code': 'TW', 'type': 'education', 'lineage': ['https://openalex.org/I148366613']}], 'countries': ['TW'], 'is_corresponding': False, 'raw_author_name': 'Ya‐Sian Chang', 'raw_affiliation_strings': ['Center for Precision Medicine, China Medical University Hospital, Taichung, Taiwan', 'Department of Laboratory Medicine, China Medical University Hospital, China Medical University, Taichung, Taiwan', 'Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan', 'School of Medicine, China Medical University, Taichung, Taiwan'], 'affiliations': [{'raw_affiliation_string': 'Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan', 'institution_ids': ['https://openalex.org/I4210126829', 'https://openalex.org/I184693016']}, {'raw_affiliation_string': 'School of Medicine, China Medical University, Taichung, Taiwan', 'institution_ids': ['https://openalex.org/I184693016', 'https://openalex.org/I148366613']}, {'raw_affiliation_string': 'Center for Precision Medicine, China Medical University Hospital, Taichung, Taiwan', 'institution_ids': ['https://openalex.org/I4210126829', 'https://openalex.org/I184693016']}, {'raw_affiliation_string': 'Department of Laboratory Medicine, China Medical University Hospital, China Medical University, Taichung, Taiwan', 'institution_ids': ['https://openalex.org/I4210126829', 'https://openalex.org/I184693016']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5101660413', 'display_name': 'Chien Yu Lin', 'orcid': 'https://orcid.org/0000-0003-2705-9742'}, 'institutions': [{'id': 'https://openalex.org/I184693016', 'display_name': 'China Medical University', 'ror': 'https://ror.org/00v408z34', 'country_code': 'TW', 'type': 'education', 'lineage': ['https://openalex.org/I184693016']}], 'countries': ['TW'], 'is_corresponding': False, 'raw_author_name': 'Chien‐Yu Lin', 'raw_affiliation_strings': ['Graduate Institute of Clinical Medical Science, School of Medicine, China Medical University, Taichung, Taiwan'], 'affiliations': [{'raw_affiliation_string': 'Graduate Institute of Clinical Medical Science, School of Medicine, China Medical University, Taichung, Taiwan', 'institution_ids': ['https://openalex.org/I184693016']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5066449849', 'display_name': 'Jan‐Gowth Chang', 'orcid': 'https://orcid.org/0000-0003-0375-1427'}, 'institutions': [{'id': 'https://openalex.org/I4210126829', 'display_name': 'China Medical University Hospital', 'ror': 'https://ror.org/0368s4g32', 'country_code': 'TW', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210126829']}, {'id': 'https://openalex.org/I184693016', 'display_name': 'China Medical University', 'ror': 'https://ror.org/00v408z34', 'country_code': 'TW', 'type': 'education', 'lineage': ['https://openalex.org/I184693016']}, {'id': 'https://openalex.org/I148366613', 'display_name': 'National Yang Ming Chiao Tung University', 'ror': 'https://ror.org/00se2k293', 'country_code': 'TW', 'type': 'education', 'lineage': ['https://openalex.org/I148366613']}, {'id': 'https://openalex.org/I143578492', 'display_name': 'Asia University', 'ror': 'https://ror.org/038a1tp19', 'country_code': 'TW', 'type': 'education', 'lineage': ['https://openalex.org/I143578492']}], 'countries': ['TW'], 'is_corresponding': True, 'raw_author_name': 'Jan‐Gowth Chang', 'raw_affiliation_strings': ['Center for Precision Medicine, China Medical University Hospital, Taichung, Taiwan', 'Department of Bioinformatics and Medical Engineering, Asia University, Taichung, Taiwan', 'Department of Laboratory Medicine, China Medical University Hospital, China Medical University, Taichung, Taiwan', 'Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan', 'School of Medicine, China Medical University, Taichung, Taiwan'], 'affiliations': [{'raw_affiliation_string': 'Center for Precision Medicine, China Medical University Hospital, Taichung, Taiwan', 'institution_ids': ['https://openalex.org/I4210126829', 'https://openalex.org/I184693016']}, {'raw_affiliation_string': 'Department of Laboratory Medicine, China Medical University Hospital, China Medical University, Taichung, Taiwan', 'institution_ids': ['https://openalex.org/I4210126829', 'https://openalex.org/I184693016']}, {'raw_affiliation_string': 'School of Medicine, China Medical University, Taichung, Taiwan', 'institution_ids': ['https://openalex.org/I184693016', 'https://openalex.org/I148366613']}, {'raw_affiliation_string': 'Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan', 'institution_ids': ['https://openalex.org/I4210126829', 'https://openalex.org/I184693016']}, {'raw_affiliation_string': 'Department of Bioinformatics and Medical Engineering, Asia University, Taichung, Taiwan', 'institution_ids': ['https://openalex.org/I143578492']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 7, 'corresponding_author_ids': ['https://openalex.org/A5066449849'], 'corresponding_institution_ids': ['https://openalex.org/I4210126829', 'https://openalex.org/I184693016', 'https://openalex.org/I148366613', 'https://openalex.org/I143578492'], 'apc_list': {'value': 2200, 'currency': 'EUR', 'value_usd': 2574, 'provenance': 'doaj'}, 'apc_paid': {'value': 2200, 'currency': 'EUR', 'value_usd': 2574, 'provenance': 'doaj'}, 'fwci': 0.0, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 0, 'citation_normalized_percentile': {'value': 0.0, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 0, 'max': 62}, 'biblio': {'volume': '8', 'issue': '5', 'first_page': None, 'last_page': None}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T12286', 'display_name': 'Mechanosensitive Ion Channels in Physiology and Disease', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/2737', 'display_name': 'Physiology'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, 'topics': [{'id': 'https://openalex.org/T12286', 'display_name': 'Mechanosensitive Ion Channels in Physiology and Disease', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/2737', 'display_name': 'Physiology'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, {'id': 'https://openalex.org/T11721', 'display_name': 'Blood Rheology and Coagulation Mechanisms', 'score': 0.9881, 'subfield': {'id': 'https://openalex.org/subfields/2740', 'display_name': 'Pulmonary and Respiratory Medicine'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, {'id': 'https://openalex.org/T10493', 'display_name': 'Molecular Mechanisms of Ion Channels Regulation', 'score': 0.9587, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/exome', 'display_name': 'Exome', 'score': 0.5647186}, {'id': 'https://openalex.org/keywords/anemia', 'display_name': 'Anemia', 'score': 0.508554}], 'concepts': [{'id': 'https://openalex.org/C16671776', 'wikidata': 'https://www.wikidata.org/wiki/Q5420592', 'display_name': 'Exome sequencing', 'level': 4, 'score': 0.8284823}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.6468868}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.56619}, {'id': 'https://openalex.org/C10590036', 'wikidata': 'https://www.wikidata.org/wiki/Q417664', 'display_name': 'Exome', 'level': 5, 'score': 0.5647186}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.517673}, {'id': 'https://openalex.org/C2778248108', 'wikidata': 'https://www.wikidata.org/wiki/Q5445', 'display_name': 'Anemia', 'level': 2, 'score': 0.50910133}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.36607325}, {'id': 'https://openalex.org/C187212893', 'wikidata': 'https://www.wikidata.org/wiki/Q123028', 'display_name': 'Pediatrics', 'level': 1, 'score': 0.35372728}, {'id': 'https://openalex.org/C60644358', 'wikidata': 'https://www.wikidata.org/wiki/Q128570', 'display_name': 'Bioinformatics', 'level': 1, 'score': 0.34422857}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.1463463}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.11490637}], 'mesh': [{'descriptor_ui': 'D000740', 'descriptor_name': 'Anemia', 'qualifier_ui': 'Q000151', 'qualifier_name': 'congenital', 'is_major_topic': True}, {'descriptor_ui': 'D006023', 'descriptor_name': 'Glycoproteins', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D009687', 'descriptor_name': 'Nuclear Proteins', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000740', 'descriptor_name': 'Anemia', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000740', 'descriptor_name': 'Anemia', 'qualifier_ui': 'Q000473', 'qualifier_name': 'pathology', 'is_major_topic': False}, {'descriptor_ui': 'D000740', 'descriptor_name': 'Anemia', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D002648', 'descriptor_name': 'Child', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004913', 'descriptor_name': 'Erythrocytes, Abnormal', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004913', 'descriptor_name': 'Erythrocytes, Abnormal', 'qualifier_ui': 'Q000473', 'qualifier_name': 'pathology', 'is_major_topic': False}, {'descriptor_ui': 'D005808', 'descriptor_name': 'Genes, Recessive', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006023', 'descriptor_name': 'Glycoproteins', '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': 'D008297', 'descriptor_name': 'Male', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009687', 'descriptor_name': 'Nuclear Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000073359', 'descriptor_name': 'Whole Exome Sequencing', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 5, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1002/mgg3.1220', 'pdf_url': 'https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.1220', 'source': {'id': 'https://openalex.org/S2764373787', 'display_name': 'Molecular Genetics & Genomic Medicine', 'issn_l': '2324-9269', 'issn': ['2324-9269'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320595', 'host_organization_name': 'Wiley', 'host_organization_lineage': ['https://openalex.org/P4310320595'], 'host_organization_lineage_names': ['Wiley'], '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': False, 'landing_page_url': 'https://doaj.org/article/500af3b379814f32b342efeb7a7fdb08', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306401280', 'display_name': 'DOAJ (DOAJ: Directory of Open Access Journals)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': None, 'host_organization_name': None, 'host_organization_lineage': [], 'host_organization_lineage_names': [], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': True, 'landing_page_url': 'https://europepmc.org/articles/pmc7216794', 'pdf_url': 'https://europepmc.org/articles/pmc7216794?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': '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://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216794', '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/32160409', '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/10.1002/mgg3.1220', 'pdf_url': 'https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.1220', 'source': {'id': 'https://openalex.org/S2764373787', 'display_name': 'Molecular Genetics & Genomic Medicine', 'issn_l': '2324-9269', 'issn': ['2324-9269'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320595', 'host_organization_name': 'Wiley', 'host_organization_lineage': ['https://openalex.org/P4310320595'], 'host_organization_lineage_names': ['Wiley'], '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': [{'id': 'https://metadata.un.org/sdg/3', 'score': 0.55, 'display_name': 'Good health and well-being'}], 'grants': [{'funder': 'https://openalex.org/F4320309618', 'funder_display_name': 'Ministry of Science and Technology', 'award_id': 'MOST 106‐2314‐B‐037‐079‐MY2'}, {'funder': 'https://openalex.org/F4320322811', 'funder_display_name': 'Kaohsiung Medical University', 'award_id': 'KMUH107‐7R41'}], 'datasets': [], 'versions': [], 'referenced_works_count': 24, 'referenced_works': ['https://openalex.org/W174542323', 'https://openalex.org/W1967093969', 'https://openalex.org/W1967509025', 'https://openalex.org/W1988145966', 'https://openalex.org/W1991303774', 'https://openalex.org/W1997934712', 'https://openalex.org/W2001092646', 'https://openalex.org/W2011026309', 'https://openalex.org/W2013336961', 'https://openalex.org/W2018727536', 'https://openalex.org/W2023777401', 'https://openalex.org/W2036126782', 'https://openalex.org/W2044942271', 'https://openalex.org/W2054759116', 'https://openalex.org/W2059581552', 'https://openalex.org/W2089954873', 'https://openalex.org/W2121690661', 'https://openalex.org/W2145557977', 'https://openalex.org/W2146368689', 'https://openalex.org/W2171254942', 'https://openalex.org/W2762124529', 'https://openalex.org/W2799812275', 'https://openalex.org/W2885671628', 'https://openalex.org/W2897613083'], 'related_works': ['https://openalex.org/W3083501552', 'https://openalex.org/W3024198590', 'https://openalex.org/W2772505697', 'https://openalex.org/W2484239316', 'https://openalex.org/W2400191746', 'https://openalex.org/W2172231381', 'https://openalex.org/W2106924416', 'https://openalex.org/W2093932542', 'https://openalex.org/W2043256480', 'https://openalex.org/W1983406990'], 'abstract_inverted_index': {'Congenital': [0], 'dyserythropoiesis': [1, 122], 'anemia': [2, 47, 123], 'type': [3, 124], 'Ia': [4, 125, 140], '(OMIM:224120),': [5], 'is': [6, 13, 87, 115, 156], 'a': [7, 39, 88], 'rare': [8], 'hereditary': [9, 150], 'anemia.': [10], 'The': [11, 103], 'diagnosis': [12, 37, 128, 160], 'difficult': [14], 'to': [15, 23, 129], 'make': [16], 'and': [17, 26, 50, 70, 82, 98, 141], 'usually': [18], 'delayed': [19], 'in': [20, 61, 67, 93, 132], 'part': [21], 'due': [22], 'its': [24], 'rarity': [25, 137], 'nonspecific': [27], 'clinical': [28, 146], 'manifestations.Whole': [29], 'exome': [30, 63, 96], 'sequencing': [31, 56, 64, 97, 154], 'was': [32, 65, 107], 'applied': [33], 'for': [34, 158], 'the': [35, 58, 68, 94, 116, 136, 142, 145, 152], 'genetic': [36, 127], 'of': [38, 57, 75, 120, 135, 138, 144, 161], '12-year-old': [40], 'boy': [41], 'who': [42, 51], 'has': [43], 'suffered': [44], 'from': [45], 'hemolytic': [46], 'since': [48], 'birth': [49], 'requires': [52], 'regular': [53], 'transfusions.': [54], 'Sanger': [55, 101], 'variants': [59], 'detected': [60, 92], 'whole': [62, 95], 'performed': [66], 'patient': [69], 'his': [71], 'parents.Compound': [72], 'heterozygous': [73], 'mutations': [74], 'CDAN1': [76], 'gene,': [77], 'including': [78], 'one': [79, 83], 'previously': [80], 'reported': [81], 'novel': [84], 'mutation,': [85], 'which': [86], 'splicing': [89], 'change,': [90], 'were': [91], 'confirmed': [99, 108], 'by': [100, 109], 'sequencing.': [102], 'autosomal': [104], 'recessive': [105], 'inheritance': [106], 'pedigree': [110], 'analysis.To': [111], 'our': [112], 'knowledge,': [113], 'this': [114], 'first': [117], 'case': [118], 'report': [119], 'congenital': [121], 'with': [126, 148], 'be': [130], 'located': [131], 'Taiwan.': [133], 'Because': [134], 'CDA': [139, 162], 'overlapping': [143], 'manifestations': [147], 'other': [149], 'anemias,': [151], 'next-generation': [153], 'approach': [155], 'effective': [157], 'conclusive': [159], 'Ia.': [163]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W3011357560', 'counts_by_year': [], 'updated_date': '2024-09-16T07:11:40.691390', 'created_date': '2020-03-23'}