Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Y101Splc
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BRCA1

NM_007294.4:p.Y101Splc

Associated Papers

A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.

De Nicolo A et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2008

Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals.

Rutter JL et al.

Human Mutation, 2003

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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."