Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.K1095fs
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BRCA1

NM_007294.4:p.K1095fs

Associated Papers

Prevalence and Landscape of Pathogenic or Likely Pathogenic Germline Variants and Their Association With Somatic Phenotype in Unselected Chinese Patients With Gynecologic Cancers.

Wen H et al.

Jama Network Open, 2023

37523182 (PubMed )
Supplement: jamanetwopen-e2326437-s001.pdf

Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection.

Capone GL et al.

The Journal of Molecular Diagnostics : Jmd, 2018

Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy.

Papi L et al.

Breast Cancer Research and Treatment, 2009

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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."