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Article

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

Scientific reports - 27 May 2021

Poon Kok-Siong

Abstract excerpt

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 Intolerant from Tolerant (SIFT) are two widely applied bioinformatics tools used to assess the functional impacts of...

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Identifiers

PMID: 34045478
DOI: 10.1038/s41598-021-88586-w
PMCID: PMC8160182

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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