Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E597delFs
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BRCA1

NM_007294.4:p.E597delFs

Associated Papers

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA2

High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations.

de Juan I et al.

Breast Cancer Research and Treatment, 2009

BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer.

Couch FJ et al.

The New England Journal of Medicine, 1997

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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."