Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.K242delins
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BRCA2

NM_000059.4:p.K242delins

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

Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.

Caputo SM et al.

Oncotarget, 2018

An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition.

Muller D et al.

Bmc Medical Genetics, 2011

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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."