Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Q1327H
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BRCA1

NM_007294.4:p.Q1327H

Associated Papers

Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma.

Thibodeau ML et al.

Cold Spring Harbor Molecular Case Studies, 2017

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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."