Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1559Splc
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BRCA1

NM_007294.4:p.E1559Splc

Associated Papers

BRCA1 and BRCA2 mutations and their clinical relevance in selected women diagnosed with triple-negative breast cancer in Kenya: a descriptive cross-sectional study.

Rioki JN et al.

The Pan African Medical Journal, 2023

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

Spectrum of BRCA1/2 Mutations in Romanian Breast and Ovarian Cancer Patients.

Vidra R et al.

International Journal of Environmental Research and Public Health, 2022

Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.

Montalban G et al.

Human Mutation, 2019

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Moles-Fernández A et al.

Frontiers in Genetics, 2018

30233647 (PubMed )
Supplement: Table_1.XLSX › Supplem_Table_2
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