Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Q804del1
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BRCA1

NM_007294.4:p.Q804del1

Associated Papers

Germline RBBP8 variants associated with early-onset breast cancer compromise replication fork stability.

Zarrizi R et al.

The Journal of Clinical Investigation, 2020

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Soukupova J et al.

Plos One, 2018

29649263 (PubMed )
Supplement: pone.0195761.s006.xlsx › S6
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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."