Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.I383fs
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BRCA2

NM_000059.4:p.I383fs

Associated Papers

Genetic analysis in fetuses with isolated clubfoot: diagnostic insights and added value.

de Vries JM et al.

European Journal of Human Genetics : Ejhg, 2026

Genomic instability in non-breast or ovarian malignancies of individuals with germline pathogenic variants in BRCA1/2.

Elze L et al.

Journal of the National Cancer Institute, 2024

38960732 (PubMed )
Supplement: djae160_supplementary_data.zip › djae160_Supplementary_Data › JNCI-24-0169_supplementaryTables_revised.xlsx › Supplementary_Table_S2

Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.

Hirotsu Y et al.

International Journal of Molecular Sciences, 2020

32486089 (PubMed )
Supplement: ijms-21-03895-s001.zip › Supplemental_Table_2.xlsx › ENIGMA

Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition.

Vos JR et al.

Journal of the National Cancer Institute, 2020

Validation and Implementation of BRCA1/2 Variant Screening in Ovarian Tumor Tissue.

de Jonge MM et al.

The Journal of Molecular Diagnostics : Jmd, 2018

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

van der Hout AH et al.

Human Mutation, 2006

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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."