Varaico: Literature-Extracted Genetic Variants

Gene:ERCC8
Variant:p.M1Fs
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ERCC8

NM_000082.4:p.M1Fs

Associated Papers

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

Identification of one Novel complex delins mutation and one recurrent mutation of ERCC8 gene in a Chinese family with Cockayne Syndrome A.

Gu Y et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017

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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."