Varaico: Literature-Extracted Genetic Variants

Gene:ERCC8
Variant:p.L281_V282Splc
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ERCC8

NM_000082.4:p.L281_V282Splc

Associated Papers

Supplementation with nicotinamide limits accelerated aging in affected individuals with cockayne syndrome and restores antioxidant defenses.

Chikhaoui A et al.

Aging, 2024

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

Liu MW et al.

Molecular Biology Reports, 2024

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

Chikhaoui A et al.

Orphanet Journal of Rare Diseases, 2022

Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B.

Zayoud K et al.

Genes, 2021

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

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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."