Varaico: Literature-Extracted Genetic Variants

Gene:XPC
Variant:p.Q467*
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XPC

NM_004628.5:p.Q467*

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

XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect.

Ijaz A et al.

Congenital Anomalies, 2019

Revisiting the structural features of the xeroderma pigmentosum proteins: Focus on mutations and knowledge gaps.

Feltes BC

Mutation Research. Reviews in Mutation Research, 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."