{"id":"https://openalex.org/W3217413285","doi":null,"title":"Table 1. [Molecular Genetic Testing Used in PLP1 Disorders].","display_name":"Table 1. [Molecular Genetic Testing Used in PLP1 Disorders].","publication_year":2019,"publication_date":"2019-12-19","ids":{"openalex":"https://openalex.org/W3217413285","mag":"3217413285"},"language":"en","primary_location":{"id":"mag:3217413285","doi":null,"is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/books/NBK1182/table/pmd.T.molecular_genetic_testing_used_in/","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/A5022684911","display_name":"Nicole I. Wolf","orcid":"https://orcid.org/0000-0003-1721-0728","observed_orcids":["https://orcid.org/0000-0003-1721-0728","https://orcid.org/0000-0003-0830-4626"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Nicole I. Wolf","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-1721-0728","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113918687","display_name":"Rosalina M.L. van Spaendonk","orcid":"https://orcid.org/0000-0002-6077-8725","observed_orcids":["https://orcid.org/0000-0002-6077-8725"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rosalina Ml van Spaendonk","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091066839","display_name":"Grace M. Hobson","orcid":"https://orcid.org/0000-0002-5275-5953","observed_orcids":["https://orcid.org/0000-0002-5275-5953"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Grace M. Hobson","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-5275-5953","affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5079253030","display_name":"John A. Kamholz","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"John Kamholz","raw_affiliation_strings":[],"raw_orcid":null,"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":0.30074436,"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":0.5673999786376953,"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":0.5673999786376953,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.18979999423027039,"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"}},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.07999999821186066,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/plp1","display_name":"PLP1","score":0.8190000057220459},{"id":"https://openalex.org/keywords/charcot-marie-tooth-disease","display_name":"Charcot-Marie-Tooth disease","score":0.7239999771118164},{"id":"https://openalex.org/keywords/molecular-genetic-testing","display_name":"molecular genetic testing","score":0.8659999966621399},{"id":"https://openalex.org/keywords/gene-mutation-analysis","display_name":"gene mutation analysis","score":0.3610000014305115},{"id":"https://openalex.org/keywords/peripheral-neuropathy-diagnosis","display_name":"peripheral neuropathy diagnosis","score":0.5540000200271606}],"concepts":[{"id":"https://openalex.org/C45235069","wikidata":"https://www.wikidata.org/wiki/Q278425","display_name":"Table (database)","level":2,"score":0.6537846922874451},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.3443267345428467},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.1760919690132141}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:3217413285","doi":null,"is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/books/NBK1182/table/pmd.T.molecular_genetic_testing_used_in/","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":[{"id":"https://metadata.un.org/sdg/3","score":0.8371999859809875,"display_name":"Good health and well-being"}],"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/W2578281857","https://openalex.org/W2562508632","https://openalex.org/W2562872572","https://openalex.org/W2519073003","https://openalex.org/W3205679481","https://openalex.org/W3216887669","https://openalex.org/W27523376","https://openalex.org/W2577752828","https://openalex.org/W2530855066","https://openalex.org/W3165280543"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2021-12-06T00:00:00"}
