Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.V611V
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ERCC2

NM_000400.4:p.V611V

Associated Papers

Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes.

Schäfer A et al.

Experimental Dermatology, 2013

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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."