Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.K1052insFs
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ERCC6

NM_000124.4:p.K1052insFs

Associated Papers

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

Chikhaoui A et al.

Aging, 2024

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

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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."