Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S2522_L2523delFs
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BRCA2

NM_000059.4:p.S2522_L2523delFs

Associated Papers

Array genotyping as diagnostic approach in medical genetics.

Witsch-Baumgartner M et al.

Molecular Genetics & Genomic Medicine, 2022

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS5.xlsx › BRCA2

Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.

Fraile-Bethencourt E et al.

Frontiers in Genetics, 2019

31191615 (PubMed )
Supplement: Data_Sheet_1.PDF

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.

Lesueur F et al.

Frontiers in Oncology, 2018

30430080 (PubMed )
Supplement: Table_2.XLSX › Supplementary_Table_2
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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."