Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.G1348delFs
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BRCA1

NM_007294.4:p.G1348delFs

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_TableS2.xlsx › BRCA1

Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Kasugai Y et al.

Cancer Science, 2022

35218119 (PubMed )
Supplement: CAS-113-1451-s002.xlsx › Table_S1

Germline Missense Variants in BRCA1: New Trends and Challenges for Clinical Annotation.

Golubeva VA et al.

Cancers, 2019

Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling.

Petersen AH et al.

European Journal of Human Genetics : Ejhg, 2016

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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."