Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.W1718Splc
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BRCA1

NM_007294.4:p.W1718Splc

Associated Papers

High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.

Evans DG et al.

Journal of Medical Genetics, 2022

33758026 (PubMed )
Supplement: jmedgenet-2020-107347supp001.pdf

Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.

Byers H et al.

European Journal of Human Genetics : Ejhg, 2016

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