{"id":"https://openalex.org/W2578281857","doi":null,"title":"Table 2. [Summary of Molecular Genetic Testing Used in PLP1-Related Disorders].","display_name":"Table 2. [Summary of Molecular Genetic Testing Used in PLP1-Related Disorders].","publication_year":2013,"publication_date":"2013-02-28","ids":{"openalex":"https://openalex.org/W2578281857","mag":"2578281857"},"language":"en","primary_location":{"id":"mag:2578281857","doi":null,"is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/books/NBK1182/table/pmd.T.summary_of_molecular_genetic_testi/","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/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":0.26973488,"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":0.5702999830245972,"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":0.5702999830245972,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.14669999480247498,"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":0.14499999582767487,"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/plp1","display_name":"PLP1","score":0.8450000286102295},{"id":"https://openalex.org/keywords/charcot-marie-tooth-disease","display_name":"Charcot-Marie-Tooth disease","score":0.7110000252723694},{"id":"https://openalex.org/keywords/molecular-genetic-testing","display_name":"molecular genetic testing","score":0.8730000257492065},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.33500000834465027},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.3499999940395355}],"concepts":[{"id":"https://openalex.org/C45235069","wikidata":"https://www.wikidata.org/wiki/Q278425","display_name":"Table (database)","level":2,"score":0.6906220316886902},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.4261879622936249},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.2517492175102234}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2578281857","doi":null,"is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/books/NBK1182/table/pmd.T.summary_of_molecular_genetic_testi/","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,"id":"https://metadata.un.org/sdg/3","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/W3217413285","https://openalex.org/W2562508632","https://openalex.org/W2562872572","https://openalex.org/W2577752828","https://openalex.org/W3205679481","https://openalex.org/W2530855066","https://openalex.org/W2562132827","https://openalex.org/W2556394489","https://openalex.org/W2519073003","https://openalex.org/W2574658995"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-09-22T06:50:58.402377","created_date":"2017-01-26T00:00:00"}
