Varaico: Literature-Extracted Genetic Variants

Gene:ERCC8
Variant:p.L124fs
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ERCC8

NM_000082.4:p.L124fs

Associated Papers

Clinical and genetic analysis of ERCC8-Related cockayne syndrome: hepatic dysfunction as a biomarker, anhidrosis as a rare feature, and rehabilitation outcomes for ankle contractures.

Chen J et al.

Frontiers in Genetics, 2025

Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants.

Duong NT et al.

Aging, 2022

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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."