Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.L2540fs
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BRCA2

NM_000059.4:p.L2540fs

Associated Papers

Management of BRCA Tumour Testing in an Integrated Molecular Tumour Board Multidisciplinary Model.

Azzollini J et al.

Frontiers in Oncology, 2022

35463374 (PubMed )
Supplement: Table_2.xlsx › BRCA_PVs

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

Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.

Fraile-Bethencourt E et al.

Frontiers in Genetics, 2018

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