Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.N1215K
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BRCA1

NM_007294.4:p.N1215K

Associated Papers

BRCA1-specific machine learning model predicts variant pathogenicity with high accuracy.

Khandakji M et al.

Physiological Genomics, 2023

A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.

Fierheller CT et al.

Genome Medicine, 2021

34861889 (PubMed )
Supplement: 13073_2021_998_MOESM1_ESM.xlsx › S15

Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.

Fernández-Lopez JC et al.

Human Genomics, 2019

30630528 (PubMed )
Supplement: 40246_2018_188_MOESM2_ESM.xlsx › Hoja1
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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."