Varaico: Literature-Extracted Genetic Variants

Gene:ERCC8
Variant:p.L281_V282Splc
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ERCC8

NM_000082.4:p.L281_V282Splc

Associated Papers

Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations.

Chikhaoui A et al.

Orphanet Journal of Rare Diseases, 2022

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

The role of Cockayne syndrome group A (CSA) protein in transcription-coupled nucleotide excision repair.

Saijo M

Mechanisms of Ageing and Development, 0

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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."