Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.D386E
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ERCC6

NM_000124.4:p.D386E

Associated Papers

A dominant vimentin variant causes a rare syndrome with premature aging.

Cogné B et al.

European Journal of Human Genetics : Ejhg, 2020

32066935 (PubMed )
Supplement: 41431_2020_583_MOESM3_ESM.xlsx › Feuil1

Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Yadav S et al.

Oncogene, 2020

32300177 (PubMed )
Supplement: 41388_2020_1280_MOESM3_ESM.xlsx › Main_Sheet_

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_DNArep

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf
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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."