Varaico: Literature-Extracted Genetic Variants

Gene:ERCC8
Variant:p.Y200fs
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ERCC8

NM_000082.4:p.Y200fs

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

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."