Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L431S
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BRCA1

NM_007294.4:p.L431S

Associated Papers

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s006.xlsx › BRCA1

Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Huang C et al.

Genome Biology, 2021

33691754 (PubMed )
Supplement: 13059_2021_2305_MOESM7_ESM.xlsx › Table_S6

Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.

Chirita-Emandi A et al.

Scientific Reports, 2020

31937788 (PubMed )
Supplement: 41598_2019_57080_MOESM2_ESM.xlsx › candidate_variants

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s006.xlsx › Total_BRCA1___BRCA2
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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."