Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E1755*
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BRCA2

NM_000059.4:p.E1755*

Associated Papers

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

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

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.

Caux-Moncoutier V et al.

European Journal of Human Genetics : Ejhg, 2009

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