Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S646R
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BRCA2

NM_000059.4:p.S646R

Associated Papers

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.

Thomassen M et al.

Human Mutation, 2022

35979650 (PubMed )
Supplement: HUMU-43-1921-s002.XLSX › Supp_T3

Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

G V et al.

Frontiers in Genetics, 2022

36561320 (PubMed )
Supplement: Table2.xlsx › BRCA2

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.

Wai HA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32123317 (PubMed )
Supplement: 41436_2020_766_MOESM3_ESM.xlsx › Variant_summary
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."