Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.N1236fs
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BRCA1

NM_007294.4:p.N1236fs

Associated Papers

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

Determination of Pathogenicity of Breast Cancer 1 Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines.

Brown A et al.

Sultan Qaboos University Medical Journal, 2019

Landscape of genomic alterations in high-grade serous ovarian cancer from exceptional long- and short-term survivors.

Yang SYC et al.

Genome Medicine, 2018

Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing.

Kang HP et al.

Peerj, 2016

27375968 (PubMed )
Supplement: peerj-04-2162-s004.xlsx › Sheet1
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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."