Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.G713C
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ERCC2

NM_000400.4:p.G713C

Associated Papers

A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship.

Pehlivan D et al.

The Journal of Dermatology, 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."