Varaico: Literature-Extracted Genetic Variants

Gene:XPC
Variant:p.P379S
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XPC

NM_004628.5:p.P379S

Associated Papers

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.

Fassihi H et al.

Proceedings of the National Academy of Sciences of the United States of America, 2016

Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.

Ahmad A et al.

Plos Genetics, 2010

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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."