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In silico analysis of BRCA1 and BRCA2 missense variants and the relevance in molecular genetic testing

Over the years since the genetic testing of BRCA1 and BRCA2 has been conducted for research and later introduced into clinical practice, a high number of missense variants have been reported in the literature and deposited in public databases. Polymorphism Phenotyping v2 (PolyPhen-2) and Sorting Int...

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Detalles Bibliográficos
Autor principal: Poon, Kok-Siong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8160182/
https://www.ncbi.nlm.nih.gov/pubmed/34045478
http://dx.doi.org/10.1038/s41598-021-88586-w