{"id":"https://openalex.org/W2587635234","doi":null,"title":"Table 2. [STAMBP Pathogenic Variants Discussed in This GeneReview].","display_name":"Table 2. [STAMBP Pathogenic Variants Discussed in This GeneReview].","publication_year":2013,"publication_date":"2013-12-12","ids":{"openalex":"https://openalex.org/W2587635234","mag":"2587635234"},"language":"en","primary_location":{"id":"mag:2587635234","doi":null,"is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/books/NBK174452/table/miccap-ms.T.stambp_pathogenic_variants_d/","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null},"volume":null,"type":"article","indexed_in":[],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5086299181","display_name":"Melissa T. Carter","orcid":"https://orcid.org/0000-0001-7211-3731","observed_orcids":["https://orcid.org/0000-0001-7211-3731"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Melissa T. Carter","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-7211-3731","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090823515","display_name":"Ghayda Mirzaa","orcid":"https://orcid.org/0000-0003-2648-7657","observed_orcids":["https://orcid.org/0000-0003-2648-7657"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ghayda Mirzaa","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-2648-7657","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081730724","display_name":"Laura M. McDonell","orcid":"https://orcid.org/0000-0001-9375-4423","observed_orcids":["https://orcid.org/0000-0001-9375-4423"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Laura M. McDonell","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-9375-4423","affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5065051535","display_name":"Kym M. Boycott","orcid":"https://orcid.org/0000-0003-4186-8052","observed_orcids":["https://orcid.org/0000-0003-4186-8052"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kym M. Boycott","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-4186-8052","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.27155572,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.961899995803833,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.961899995803833,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.003000000026077032,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.003000000026077032,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/pathogenic-variants","display_name":"pathogenic variants","score":0.8610000014305115},{"id":"https://openalex.org/keywords/genetic-variants","display_name":"genetic variants","score":0.45100000500679016}],"concepts":[{"id":"https://openalex.org/C45235069","wikidata":"https://www.wikidata.org/wiki/Q278425","display_name":"Table (database)","level":2,"score":0.5045002698898315},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3248326778411865},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.2729032635688782},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.26225945353507996},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.14647680521011353}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2587635234","doi":null,"is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/books/NBK174452/table/miccap-ms.T.stambp_pathogenic_variants_d/","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8048999905586243,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2532076021","https://openalex.org/W3187081017","https://openalex.org/W2528672660","https://openalex.org/W3189077224","https://openalex.org/W2581342606","https://openalex.org/W2528751605","https://openalex.org/W2581383987","https://openalex.org/W2565877997","https://openalex.org/W3161076270","https://openalex.org/W2562271966"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2025-11-06T04:12:42.849631","created_date":"2017-02-17T00:00:00"}