Varaico: Literature-Extracted Genetic Variants

Gene:POLH
Variant:p.F290S
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POLH

NM_006502.3:p.F290S

Associated Papers

Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.

Opletalova K et al.

Human Mutation, 2014

Structure and mechanism of human DNA polymerase eta.

Biertümpfel C et al.

Nature, 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."