Varaico: Literature-Extracted Genetic Variants

Gene:POLH
Variant:p.W174C
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POLH

NM_006502.3:p.W174C

Associated Papers

Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant.

Ricciardiello R et al.

Scientific Reports, 2024

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

Pugh J et al.

Jama Dermatology, 2019

Structure and mechanism of human DNA polymerase eta.

Biertümpfel C et al.

Nature, 2010

Xeroderma pigmentosum-variant patients from America, Europe, and Asia.

Inui H et al.

The Journal of Investigative Dermatology, 2008

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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."