Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.G675R
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ERCC6

NM_000124.4:p.G675R

Associated Papers

Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.

Cleaver JE et al.

Nature Reviews. Genetics, 2009

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

Cleaver JE et al.

Human Mutation, 1999

Cockayne syndrome pathogenesis: lessons from mouse models.

Jaarsma D et al.

Mechanisms of Ageing and Development, 0

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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."