Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L1209fs
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BRCA1

NM_007294.4:p.L1209fs

Associated Papers

Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.

Andaluz S et al.

Bmc Genomics, 2024

38671360 (PubMed )
Supplement: 12864_2024_10311_MOESM2_ESM.xlsx › BRCA1

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS5.xlsx › BRCA1

BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families.

Peixoto A et al.

Familial Cancer, 2006

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