Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.R166insFs
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BRCA1

NM_007294.4:p.R166insFs

Associated Papers

Clinical Significance of Germline Pathogenic Variants among 51 Cancer Predisposition Genes in an Unselected Cohort of Italian Pancreatic Cancer Patients.

Puccini A et al.

Cancers, 2022

36139606 (PubMed )
Supplement: cancers-14-04447-s001.zip › cancers-1881458-supplementary.pdf

Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.

Whittock NV et al.

The Journal of Investigative Dermatology, 1999

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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."