Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.N243S
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BRCA1

NM_007294.4:p.N243S

Associated Papers

DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.

Diabate M et al.

Plos Genetics, 2023

37578980 (PubMed )
Supplement: pgen.1010739.s013.xlsx › Sheet1

Detection of Cancer Mutations by Urine Liquid Biopsy as a Potential Tool in the Clinical Management of Bladder Cancer Patients.

Ibrahim NK et al.

Cancers, 2022

35205727 (PubMed )
Supplement: cancers-14-00969-s001.zip › cancers-1533743-Supplementary_Tables.xlsx › Table_S6

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 › Total_BRCA1___BRCA2

[Mutational analysis of BRCA1 and BRCA2 genes in early-onset breast cancer patients in Shanghai].

Song CG et al.

Zhonghua Yi Xue Za Zhi, 2005

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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."