Varaico: Literature-Extracted Genetic Variants

Gene:ERCC8
Variant:p.G184Splc
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ERCC8

NM_000082.4:p.G184Splc

Associated Papers

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

Liu MW et al.

Molecular Biology Reports, 2024

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

Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient.

Cui YP et al.

Pediatric Neurology, 2015

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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."