Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.L24fs
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BRCA2

NM_000059.4:p.L24fs

Associated Papers

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Zhang P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.

Gelli E et al.

Cancers, 2019

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