Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.R382K
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CHEK2

NM_007194.4:p.R382K

Associated Papers

Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis.

Thibodeau ML et al.

Cold Spring Harbor Molecular Case Studies, 2019

Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.

Stafford JL et al.

Plos One, 2017

Increased frequency of disease-causing MYH mutations in colon cancer families.

Peterlongo P et al.

Carcinogenesis, 2006

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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."