Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1731_H1732Splc
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BRCA1

NM_007294.4:p.E1731_H1732Splc

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

High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients.

Fackenthal JD et al.

International Journal of Cancer, 2012

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