Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S1004delFs
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BRCA2

NM_000059.4:p.S1004delFs

Associated Papers

The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.

Lam WKJ et al.

The Lancet Regional Health. Western Pacific, 2025

39944418 (PubMed )
Supplement: mmc1.docx

High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia.

Shumilova S et al.

International Journal of Molecular Sciences, 2024

39684352 (PubMed )
Supplement: ijms-25-12640-s001.zip › Supplementary › Table_S2._PLP_genetic_variants_found_in_patients_with_breast_cancer.xlsx › table_S2

Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis.

Bilyalov A et al.

Cancers, 2023

38201513 (PubMed )
Supplement: cancers-16-00085-s001.zip › Table_S1.xlsx › table_S1
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