Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.K531delFs
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BRCA2

NM_000059.4:p.K531delFs

Associated Papers

Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore.

Ng PS et al.

Journal of Medical Genetics, 2022

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 › BRCA2

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

Pan-cancer landscape of homologous recombination deficiency.

Nguyen L et al.

Nature Communications, 2020

33149131 (PubMed )
Supplement: 41467_2020_19406_MOESM7_ESM.xlsx › hgvs_c

Genetics of breast cancer in African populations: a literature review.

Abbad A et al.

Global Health, Epidemiology and Genomics, 2018

Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.

Ruiz A et al.

Biomed Research International, 2014

25136594 (PubMed )
Supplement: 542541.f1.pdf
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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."