Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.R837H
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ERCC6

NM_000124.4:p.R837H

Associated Papers

A novel heterozygous ERCC6 variant identified in a Chinese family with non-syndromic primary ovarian insufficiency.

Kuang L et al.

Molecular Genetics & Genomic Medicine, 2022

Identification of potential causal variants for premature ovarian failure by whole exome sequencing.

Jin H et al.

Bmc Medical Genomics, 2020

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
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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."