Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W2130038093', 'doi': 'https://doi.org/10.1002/humu.22548', 'title': 'Identification of a Novel 5′ Alternative<i>CFTR</i>mRNA Isoform in a Patient with Nasal Polyposis and<i>CFTR</i>Mutations', 'display_name': 'Identification of a Novel 5′ Alternative<i>CFTR</i>mRNA Isoform in a Patient with Nasal Polyposis and<i>CFTR</i>Mutations', 'publication_year': 2014, 'publication_date': '2014-04-09', 'ids': {'openalex': 'https://openalex.org/W2130038093', 'doi': 'https://doi.org/10.1002/humu.22548', 'mag': '2130038093', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/24633926'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1002/humu.22548', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S98809561', 'display_name': 'Human Mutation', 'issn_l': '1059-7794', 'issn': ['1059-7794', '1098-1004'], 'is_oa': False, 'is_in_doaj': False, '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': None, 'license_id': None, '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': 'gold', 'oa_url': 'https://doi.org/10.1002/humu.22548', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5017301856', 'display_name': 'Alexandre Hinzpeter', 'orcid': 'https://orcid.org/0000-0001-6920-7761'}, 'institutions': [{'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}, {'id': 'https://openalex.org/I197681013', 'display_name': 'Université Paris-Est Créteil', 'ror': 'https://ror.org/05ggc9x40', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I197681013']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Alexandre Hinzpeter', 'raw_affiliation_strings': ['INSERM U955; Créteil France', 'Université Paris-Est; Créteil France'], 'affiliations': [{'raw_affiliation_string': 'INSERM U955; Créteil France', 'institution_ids': ['https://openalex.org/I154526488']}, {'raw_affiliation_string': 'Université Paris-Est; Créteil France', 'institution_ids': ['https://openalex.org/I197681013']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5017574313', 'display_name': 'Alix de Becdelièvre', 'orcid': 'https://orcid.org/0000-0002-0488-3475'}, 'institutions': [{'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}, {'id': 'https://openalex.org/I197681013', 'display_name': 'Université Paris-Est Créteil', 'ror': 'https://ror.org/05ggc9x40', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I197681013']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Alix de Becdelièvre', 'raw_affiliation_strings': ['Department of Genetics; GH Henri Mondor; APHP Créteil France', 'INSERM U955; Créteil France', 'Université Paris-Est; Créteil France'], 'affiliations': [{'raw_affiliation_string': 'INSERM U955; Créteil France', 'institution_ids': ['https://openalex.org/I154526488']}, {'raw_affiliation_string': 'Université Paris-Est; Créteil France', 'institution_ids': ['https://openalex.org/I197681013']}, {'raw_affiliation_string': 'Department of Genetics; GH Henri Mondor; APHP Créteil France', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5102982036', 'display_name': 'Éric Bieth', 'orcid': 'https://orcid.org/0000-0003-3126-5493'}, 'institutions': [{'id': 'https://openalex.org/I4210138343', 'display_name': 'Hôpital Purpan', 'ror': 'https://ror.org/03vcx3f97', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I3019448017', 'https://openalex.org/I4210138343']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Eric Bieth', 'raw_affiliation_strings': ['Department of Genetics; Purpan Hospital; Toulouse France'], 'affiliations': [{'raw_affiliation_string': 'Department of Genetics; Purpan Hospital; Toulouse France', 'institution_ids': ['https://openalex.org/I4210138343']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5029167181', 'display_name': 'Christine Gameiro', 'orcid': None}, 'institutions': [], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Christine Gameiro', 'raw_affiliation_strings': ['Department of Genetics; GH Henri Mondor; APHP Créteil France'], 'affiliations': [{'raw_affiliation_string': 'Department of Genetics; GH Henri Mondor; APHP Créteil France', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5037153621', 'display_name': 'F. Brémont', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210161287', 'display_name': 'Life Medical Control (France)', 'ror': 'https://ror.org/05rzbbw97', 'country_code': 'FR', 'type': 'company', 'lineage': ['https://openalex.org/I4210161287']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'François Brémont', 'raw_affiliation_strings': ['Department of Pediatric Pulmonology; Pediatric CF Center; Toulouse France'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatric Pulmonology; Pediatric CF Center; Toulouse France', 'institution_ids': ['https://openalex.org/I4210161287']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5043627456', 'display_name': 'Natacha Martin', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Natacha Martin', 'raw_affiliation_strings': ['INSERM U955; Créteil France'], 'affiliations': [{'raw_affiliation_string': 'INSERM U955; Créteil France', 'institution_ids': ['https://openalex.org/I154526488']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5007135887', 'display_name': 'Bruno Costes', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}, {'id': 'https://openalex.org/I197681013', 'display_name': 'Université Paris-Est Créteil', 'ror': 'https://ror.org/05ggc9x40', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I197681013']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Bruno Costes', 'raw_affiliation_strings': ['INSERM U955; Créteil France', 'Université Paris-Est; Créteil France'], 'affiliations': [{'raw_affiliation_string': 'INSERM U955; Créteil France', 'institution_ids': ['https://openalex.org/I154526488']}, {'raw_affiliation_string': 'Université Paris-Est; Créteil France', 'institution_ids': ['https://openalex.org/I197681013']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5065966056', 'display_name': 'Cathérine Costa', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Catherine Costa', 'raw_affiliation_strings': ['Department of Genetics; GH Henri Mondor; APHP Créteil France', 'INSERM U955; Créteil France'], 'affiliations': [{'raw_affiliation_string': 'INSERM U955; Créteil France', 'institution_ids': ['https://openalex.org/I154526488']}, {'raw_affiliation_string': 'Department of Genetics; GH Henri Mondor; APHP Créteil France', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5090449828', 'display_name': 'Abdel Aissat', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}, {'id': 'https://openalex.org/I197681013', 'display_name': 'Université Paris-Est Créteil', 'ror': 'https://ror.org/05ggc9x40', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I197681013']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Abdel Aissat', 'raw_affiliation_strings': ['INSERM U955; Créteil France', 'Université Paris-Est; Créteil France'], 'affiliations': [{'raw_affiliation_string': 'INSERM U955; Créteil France', 'institution_ids': ['https://openalex.org/I154526488']}, {'raw_affiliation_string': 'Université Paris-Est; Créteil France', 'institution_ids': ['https://openalex.org/I197681013']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5032820515', 'display_name': 'Aurélie Lorot', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}, {'id': 'https://openalex.org/I197681013', 'display_name': 'Université Paris-Est Créteil', 'ror': 'https://ror.org/05ggc9x40', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I197681013']}, {'id': 'https://openalex.org/I3019246885', 'display_name': 'Centre Hospitalier Universitaire Henri-Mondor', 'ror': 'https://ror.org/04m61mj84', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I3019246885']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Aurélie Lorot', 'raw_affiliation_strings': ['ENT Department; GH Henri Mondor; APHP CHIC Créteil France', 'INSERM U955; Créteil France', 'Université Paris-Est; Créteil France'], 'affiliations': [{'raw_affiliation_string': 'INSERM U955; Créteil France', 'institution_ids': ['https://openalex.org/I154526488']}, {'raw_affiliation_string': 'Université Paris-Est; Créteil France', 'institution_ids': ['https://openalex.org/I197681013']}, {'raw_affiliation_string': 'ENT Department; GH Henri Mondor; APHP CHIC Créteil France', 'institution_ids': ['https://openalex.org/I3019246885']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5022655448', 'display_name': 'Virginie Prulière‐Escabasse', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}, {'id': 'https://openalex.org/I197681013', 'display_name': 'Université Paris-Est Créteil', 'ror': 'https://ror.org/05ggc9x40', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I197681013']}, {'id': 'https://openalex.org/I3019246885', 'display_name': 'Centre Hospitalier Universitaire Henri-Mondor', 'ror': 'https://ror.org/04m61mj84', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I3019246885']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Virginie Prulière-Escabasse', 'raw_affiliation_strings': ['ENT Department; GH Henri Mondor; APHP CHIC Créteil France', 'INSERM U955; Créteil France', 'Université Paris-Est; Créteil France'], 'affiliations': [{'raw_affiliation_string': 'INSERM U955; Créteil France', 'institution_ids': ['https://openalex.org/I154526488']}, {'raw_affiliation_string': 'Université Paris-Est; Créteil France', 'institution_ids': ['https://openalex.org/I197681013']}, {'raw_affiliation_string': 'ENT Department; GH Henri Mondor; APHP CHIC Créteil France', 'institution_ids': ['https://openalex.org/I3019246885']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5103165704', 'display_name': 'Michel Goossens', 'orcid': 'https://orcid.org/0000-0003-0871-5441'}, 'institutions': [{'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}, {'id': 'https://openalex.org/I197681013', 'display_name': 'Université Paris-Est Créteil', 'ror': 'https://ror.org/05ggc9x40', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I197681013']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Michel Goossens', 'raw_affiliation_strings': ['Department of Genetics; GH Henri Mondor; APHP Créteil France', 'INSERM U955; Créteil France', 'Université Paris-Est; Créteil France'], 'affiliations': [{'raw_affiliation_string': 'INSERM U955; Créteil France', 'institution_ids': ['https://openalex.org/I154526488']}, {'raw_affiliation_string': 'Université Paris-Est; Créteil France', 'institution_ids': ['https://openalex.org/I197681013']}, {'raw_affiliation_string': 'Department of Genetics; GH Henri Mondor; APHP Créteil France', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5054195388', 'display_name': 'Pascale Fanen', 'orcid': 'https://orcid.org/0000-0002-3273-5349'}, 'institutions': [{'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}, {'id': 'https://openalex.org/I197681013', 'display_name': 'Université Paris-Est Créteil', 'ror': 'https://ror.org/05ggc9x40', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I197681013']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Pascale Fanen', 'raw_affiliation_strings': ['Department of Genetics; GH Henri Mondor; APHP Créteil France', 'INSERM U955; Créteil France', 'Université Paris-Est; Créteil France'], 'affiliations': [{'raw_affiliation_string': 'INSERM U955; Créteil France', 'institution_ids': ['https://openalex.org/I154526488']}, {'raw_affiliation_string': 'Université Paris-Est; Créteil France', 'institution_ids': ['https://openalex.org/I197681013']}, {'raw_affiliation_string': 'Department of Genetics; GH Henri Mondor; APHP Créteil France', 'institution_ids': []}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5061488538', 'display_name': 'Emmanuelle Girodon', 'orcid': 'https://orcid.org/0000-0001-7913-4682'}, 'institutions': [{'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Emmanuelle Girodon', 'raw_affiliation_strings': ['Department of Genetics; GH Henri Mondor; APHP Créteil France', 'INSERM U955; Créteil France'], 'affiliations': [{'raw_affiliation_string': 'INSERM U955; Créteil France', 'institution_ids': ['https://openalex.org/I154526488']}, {'raw_affiliation_string': 'Department of Genetics; GH Henri Mondor; APHP Créteil France', 'institution_ids': []}]}], 'countries_distinct_count': 1, 'institutions_distinct_count': 5, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 0.0, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 2, 'citation_normalized_percentile': {'value': 0.642764, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 73, 'max': 77}, 'biblio': {'volume': '35', 'issue': '7', 'first_page': '805', 'last_page': '808'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10665', 'display_name': 'Therapeutic Advances in Cystic Fibrosis Research', 'score': 0.9997, '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'}}, 'topics': [{'id': 'https://openalex.org/T10665', 'display_name': 'Therapeutic Advances in Cystic Fibrosis Research', 'score': 0.9997, '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/T11260', 'display_name': 'Clinical Management of Tracheal and Airway Disorders', 'score': 0.9693, '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/T13738', 'display_name': 'CHARGE Syndrome and Related Genetic Disorders', 'score': 0.9661, 'subfield': {'id': 'https://openalex.org/subfields/2716', 'display_name': 'Genetics'}, '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/cystic-fibrosis', 'display_name': 'Cystic Fibrosis', 'score': 0.520079}, {'id': 'https://openalex.org/keywords/cftr', 'display_name': 'CFTR', 'score': 0.502566}], 'concepts': [{'id': 'https://openalex.org/C36823959', 'wikidata': 'https://www.wikidata.org/wiki/Q373027', 'display_name': 'Exon', 'level': 3, 'score': 0.84653735}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.8062469}, {'id': 'https://openalex.org/C2778428886', 'wikidata': 'https://www.wikidata.org/wiki/Q420470', 'display_name': 'Cystic fibrosis transmembrane conductance regulator', 'level': 3, 'score': 0.7983408}, {'id': 'https://openalex.org/C2776938444', 'wikidata': 'https://www.wikidata.org/wiki/Q178194', 'display_name': 'Cystic fibrosis', 'level': 2, 'score': 0.69705904}, {'id': 'https://openalex.org/C105580179', 'wikidata': 'https://www.wikidata.org/wiki/Q188928', 'display_name': 'Messenger RNA', 'level': 3, 'score': 0.65627027}, {'id': 'https://openalex.org/C153911025', 'wikidata': 'https://www.wikidata.org/wiki/Q7202', 'display_name': 'Molecular biology', 'level': 1, 'score': 0.6372034}, {'id': 'https://openalex.org/C53345823', 'wikidata': 'https://www.wikidata.org/wiki/Q5531554', 'display_name': 'Gene isoform', 'level': 3, 'score': 0.535464}, {'id': 'https://openalex.org/C187882448', 'wikidata': 'https://www.wikidata.org/wiki/Q283478', 'display_name': 'Complementary DNA', 'level': 3, 'score': 0.5088885}, {'id': 'https://openalex.org/C194583182', 'wikidata': 'https://www.wikidata.org/wiki/Q21114084', 'display_name': 'Alternative splicing', 'level': 4, 'score': 0.4798719}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.47913358}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.47187558}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.40881047}], 'mesh': [{'descriptor_ui': 'D019005', 'descriptor_name': 'Cystic Fibrosis Transmembrane Conductance Regulator', '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': 'D009298', 'descriptor_name': 'Nasal Polyps', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D059368', 'descriptor_name': 'RNA Isoforms', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D012333', 'descriptor_name': 'RNA, Messenger', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D020121', 'descriptor_name': "5' Untranslated Regions", 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017398', 'descriptor_name': 'Alternative Splicing', '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': 'D019005', 'descriptor_name': 'Cystic Fibrosis Transmembrane Conductance Regulator', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004252', 'descriptor_name': 'DNA Mutational Analysis', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D023061', 'descriptor_name': 'Gene Order', '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': 'D009298', 'descriptor_name': 'Nasal Polyps', 'qualifier_ui': 'Q000175', 'qualifier_name': 'diagnosis', 'is_major_topic': False}, {'descriptor_ui': 'D009298', 'descriptor_name': 'Nasal Polyps', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010375', 'descriptor_name': 'Pedigree', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012333', 'descriptor_name': 'RNA, Messenger', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 6, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1002/humu.22548', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S98809561', 'display_name': 'Human Mutation', 'issn_l': '1059-7794', 'issn': ['1059-7794', '1098-1004'], 'is_oa': False, 'is_in_doaj': False, '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': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://www.hal.inserm.fr/inserm-01044414', 'pdf_url': 'https://inserm.hal.science/inserm-01044414/document', 'source': {'id': 'https://openalex.org/S4306402512', 'display_name': 'HAL (Le Centre pour la Communication Scientifique Directe)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1294671590', 'host_organization_name': 'Centre National de la Recherche Scientifique', 'host_organization_lineage': ['https://openalex.org/I1294671590'], 'host_organization_lineage_names': ['Centre National de la Recherche Scientifique'], 'type': 'repository'}, 'license': 'other-oa', 'license_id': 'https://openalex.org/licenses/other-oa', 'version': 'submittedVersion', 'is_accepted': False, 'is_published': False}, {'is_oa': True, 'landing_page_url': 'https://www.hal.inserm.fr/inserm-01044414/document', 'pdf_url': 'https://www.hal.inserm.fr/inserm-01044414/document', 'source': {'id': 'https://openalex.org/S4306402512', 'display_name': 'HAL (Le Centre pour la Communication Scientifique Directe)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1294671590', 'host_organization_name': 'Centre National de la Recherche Scientifique', 'host_organization_lineage': ['https://openalex.org/I1294671590'], 'host_organization_lineage_names': ['Centre National de la Recherche Scientifique'], 'type': 'repository'}, 'license': 'other-oa', 'license_id': 'https://openalex.org/licenses/other-oa', 'version': 'submittedVersion', 'is_accepted': False, 'is_published': False}, {'is_oa': True, 'landing_page_url': 'https://inserm.hal.science/inserm-01044414/file/Art_Hinzpeter_Hum_Mutat_2014.pdf', 'pdf_url': 'https://inserm.hal.science/inserm-01044414/file/Art_Hinzpeter_Hum_Mutat_2014.pdf', 'source': {'id': 'https://openalex.org/S4306402512', 'display_name': 'HAL (Le Centre pour la Communication Scientifique Directe)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1294671590', 'host_organization_name': 'Centre National de la Recherche Scientifique', 'host_organization_lineage': ['https://openalex.org/I1294671590'], 'host_organization_lineage_names': ['Centre National de la Recherche Scientifique'], 'type': 'repository'}, 'license': 'other-oa', 'license_id': 'https://openalex.org/licenses/other-oa', 'version': 'submittedVersion', 'is_accepted': False, 'is_published': False}, {'is_oa': True, 'landing_page_url': 'https://www.hal.inserm.fr/inserm-01044414/file/Art_Hinzpeter_Hum_Mutat_2014.pdf', 'pdf_url': 'https://www.hal.inserm.fr/inserm-01044414/file/Art_Hinzpeter_Hum_Mutat_2014.pdf', 'source': {'id': 'https://openalex.org/S4306402512', 'display_name': 'HAL (Le Centre pour la Communication Scientifique Directe)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1294671590', 'host_organization_name': 'Centre National de la Recherche Scientifique', 'host_organization_lineage': ['https://openalex.org/I1294671590'], 'host_organization_lineage_names': ['Centre National de la Recherche Scientifique'], 'type': 'repository'}, 'license': 'other-oa', 'license_id': 'https://openalex.org/licenses/other-oa', 'version': 'submittedVersion', 'is_accepted': False, 'is_published': False}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/24633926', '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/humu.22548', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S98809561', 'display_name': 'Human Mutation', 'issn_l': '1059-7794', 'issn': ['1059-7794', '1098-1004'], 'is_oa': False, 'is_in_doaj': False, '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': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 20, 'referenced_works': ['https://openalex.org/W117013875', 'https://openalex.org/W1550521303', 'https://openalex.org/W1949252567', 'https://openalex.org/W1966979316', 'https://openalex.org/W1978008568', 'https://openalex.org/W1994788972', 'https://openalex.org/W1999664569', 'https://openalex.org/W2008971003', 'https://openalex.org/W2018781367', 'https://openalex.org/W2029161165', 'https://openalex.org/W2038503462', 'https://openalex.org/W2039599894', 'https://openalex.org/W2049401690', 'https://openalex.org/W2100440511', 'https://openalex.org/W2112005772', 'https://openalex.org/W2117472380', 'https://openalex.org/W2141008053', 'https://openalex.org/W2165862677', 'https://openalex.org/W2467835401', 'https://openalex.org/W82134577'], 'related_works': ['https://openalex.org/W4385462331', 'https://openalex.org/W3215633333', 'https://openalex.org/W2800537687', 'https://openalex.org/W2147652847', 'https://openalex.org/W2079739006', 'https://openalex.org/W2059640213', 'https://openalex.org/W2042535624', 'https://openalex.org/W2013920666', 'https://openalex.org/W1976843764', 'https://openalex.org/W1492410820'], 'abstract_inverted_index': {'Cystic': [0], 'fibrosis': [1, 16], 'may': [2], 'be': [3], 'revealed': [4], 'by': [5, 95, 122], 'nasal': [6], 'polyposis': [7], '(NP)': [8], 'starting': [9], 'early': [10], 'in': [11, 25, 50, 69, 73, 88, 96], 'life.': [12], 'We': [13], 'performed': [14], 'cystic': [15], 'transmembrane': [17], 'conductance': [18], 'regulator': [19], '(CFTR)': [20], 'DNA': [21, 41], 'and': [22, 35, 53, 65, 76], 'mRNA': [23, 56, 72], 'analyses': [24], 'the': [26, 45, 51, 54, 74, 77, 83, 89, 109, 116, 133, 142], 'family': [27], 'of': [28, 104, 111, 136, 144, 154], 'a': [29, 36, 66, 112, 137, 145], '12-year-old': [30], 'boy': [31], 'presenting': [32], 'with': [33, 141], 'NP': [34], 'normal': [37], 'sweat': [38], 'test.': [39], 'Routine': [40], 'analysis': [42, 57, 107], 'only': [43], 'showed': [44, 58, 108], 'heterozygous': [46, 84], 'c.2551C>T': [47, 64], '(p.Arg851*)': [48], 'mutation': [49], 'child': [52], 'father.': [55], 'partial': [59], 'exon': [60, 118, 125], 'skipping': [61], 'due': [62], 'to': [63, 82, 152], 'significant': [67], 'increase': [68], 'total': [70], 'CFTR': [71], 'patient': [75], 'mother,': [78], 'which': [79], 'was': [80, 120], 'attributable': [81], 'c.': [85], '−2954G>A': [86], 'variant': [87], 'distant': [90], 'promoter': [91], 'region,': [92], 'as': [93], 'demonstrated': [94], 'vitro': [97], 'luciferase': [98], 'assays.': [99], 'The': [100], '5′': [101, 146], 'rapid': [102], 'amplification': [103], 'cDNA': [105], 'ends': [106], 'presence': [110, 143], 'novel': [113], 'transcript,': [114, 150], 'where': [115], 'canonical': [117], '1': [119], 'replaced': [121], 'an': [123], 'alternative': [124], 'called': [126], '1a-Long.': [127], 'This': [128], 'case': [129], 'report': [130], 'could': [131], 'represent': [132], 'first': [134], 'description': [135], 'CFTR-related': [138], 'disorder': [139], 'associated': [140], 'alternative,': [147], 'probably': [148], 'nonfunctional': [149], 'similar': [151], 'those': [153], 'fetal': [155], 'origin.': [156]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2130038093', 'counts_by_year': [{'year': 2024, 'cited_by_count': 1}, {'year': 2018, 'cited_by_count': 1}], 'updated_date': '2024-08-13T19:08:43.451847', 'created_date': '2016-06-24'}