Varaico: Literature-Extracted Genetic Variants

Gene:ERCC8
Variant:p.Y200insFs
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ERCC8

NM_000082.4:p.Y200insFs

Associated Papers

Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape.

Oska SR et al.

Pediatric Dermatology, 2021

[Cockayne syndrome: a new mutation in the ERCC8 gene].

Conchello-Monleón R et al.

Revista De Neurologia, 2012

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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."