Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S389delFs
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BRCA1

NM_007294.4:p.S389delFs

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

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s006.xlsx › BRCA1_ethnic_source_

DiMeX: A Text Mining System for Mutation-Disease Association Extraction.

Mahmood AS et al.

Plos One, 2016

27073839 (PubMed )
Supplement: pone.0152725.s001.xlsx › Sheet1

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia.

Konecny M et al.

Breast Cancer Research and Treatment, 2011

The spectrum and incidence of BRCA1 pathogenic mutations in Slovak breast/ovarian cancer families.

Konecny M et al.

Neoplasma, 2007

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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."