Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.C1513*
Back to variants list

BRCA1

NM_007294.4:p.C1513*

Associated Papers

RediScore: Prospective validation of a pipeline for homologous recombination deficiency analysis.

Tsantikidi A et al.

Oncology Letters, 2023

37809048 (PubMed )
Supplement: Supplementary_Data2.pdf

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA1

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."