Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.K1795E
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BRCA2

NM_000059.4:p.K1795E

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
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