Varaico: Literature-Extracted Genetic Variants

Gene:ERCC8
Variant:p.L281_V282Splc
Back to variants list

ERCC8

NM_000082.4:p.L281_V282Splc

Associated Papers

A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8.

Matsuoka T et al.

Human Genome Variation, 2024

A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.

Liu MW et al.

Molecular Biology Reports, 2024

First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene.

Chebly A et al.

Bmc Medical Genetics, 2018

Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.

Wang X et al.

Scientific Reports, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."