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Assessment of incidental findings in 232 whole exome sequences from the Baylor-Hopkins Center for Mendelian Genomics

PURPOSE: In March 2013, the ACMG published a list of 56 genes with the recommendation that pathogenic and likely pathogenic variants detected incidentally by clinical sequencing should be reported to patients. As an initial step in determining the practical consequences of this recommendation in the...

詳細記述

保存先:
書誌詳細
出版年:Genet Med
主要な著者: Jurgens, Julie, Ling, Hua, Hetrick, Kurt, Pugh, Elizabeth, Schiettecatte, Francois, Doheny, Kimberly, Hamosh, Ada, Avramopoulos, Dimitri, Valle, David, Sobreira, Nara
フォーマット: Artigo
言語:Inglês
出版事項: 2015
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4496331/
https://ncbi.nlm.nih.gov/pubmed/25569433
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2014.196
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