Varaico: Literature-Extracted Genetic Variants

Gene:POLH
Variant:p.S482*
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POLH

NM_006502.3:p.S482*

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

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

Calmels N et al.

Orphanet Journal of Rare Diseases, 2016

Current state of knowledge of human DNA polymerase eta protein structure and disease-causing mutations.

Feltes BC et al.

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."