Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.K1729R
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BRCA2

NM_000059.4:p.K1729R

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

New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.

Djursby M et al.

Frontiers in Genetics, 2020

33193653 (PubMed )
Supplement: Table_1.xlsx › VUS_er_klassificering
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