Varaico: Literature-Extracted Genetic Variants

Gene:ERCC8
Variant:p.Q106*
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ERCC8

NM_000082.4:p.Q106*

Associated Papers

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome.

Schalk A et al.

European Journal of Human Genetics : Ejhg, 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."