Varaico: Literature-Extracted Genetic Variants

Gene:XPC
Variant:p.E149*
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XPC

NM_004628.5:p.E149*

Associated Papers

Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.

Pugh J et al.

Jama Dermatology, 2019

A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.

Rivera-Begeman A et al.

Dna Repair, 2007

Validation of XP-C pathogenic variations in archival material from a live XP patient.

McDaniel LD et al.

Dna Repair, 2007

DNA-based diagnosis of xeroderma pigmentosum group C by Whole-genome scan using single-nucleotide polymorphism microarray.

Lam CW et al.

The Journal of Investigative Dermatology, 2005

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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."