Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.K175_T176insFs
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BRCA1

NM_007294.4:p.K175_T176insFs

Associated Papers

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T et al.

Cancer Research, 2005

Epithelial lesions in prophylactic mastectomy specimens from women with BRCA mutations.

Kauff ND et al.

Cancer, 2003

Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1.

Eng C et al.

Journal of Medical Genetics, 2001

Ovarian carcinoma in situ with germline BRCA1 mutation and loss of heterozygosity at BRCA1 and TP53.

Werness BA et al.

Journal of the National Cancer Institute, 2000

Genetic testing for breast-ovarian cancer susceptibility: a regional trial.

Loader S et al.

Genetic Testing, 1998

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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."