Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E1555_F1559delFs
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BRCA2

NM_000059.4:p.E1555_F1559delFs

Associated Papers

Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations.

Wangensteen T et al.

Hereditary Cancer in Clinical Practice, 2019

Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11.

Baert A et al.

Human Mutation, 2018

Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

Machackova E et al.

Bmc Cancer, 2008

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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."