Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls

PURPOSE: Comparison of variant frequencies in the general population has become an essential part of the American College of Medical Genetics and Genomics (ACMG) standards and guidelines for interpreting sequence variants. We determined the optimal number of relevant ethnic controls that should be u...

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Detalles Bibliográficos
Autores principales: Park, Ji Soo, Nam, Eun Ji, Park, Hyung Seok, Han, Jung Woo, Lee, Jung-Yun, Kim, Jieun, Kim, Tae Il, Lee, Seung-Tae
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Cancer Association 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5654176/
https://www.ncbi.nlm.nih.gov/pubmed/28111427
http://dx.doi.org/10.4143/crt.2016.433

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