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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...

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Библиографические подробности
Опубликовано в: :Genet Med
Главные авторы: Jurgens, Julie, Ling, Hua, Hetrick, Kurt, Pugh, Elizabeth, Schiettecatte, Francois, Doheny, Kimberly, Hamosh, Ada, Avramopoulos, Dimitri, Valle, David, Sobreira, Nara
Формат: Artigo
Язык:Inglês
Опубликовано: 2015
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Online-ссылка: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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