Varaico: Literature-Extracted Genetic Variants

Gene:POLH
Variant:p.E164fs
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POLH

NM_006502.3:p.E164fs

Associated Papers

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Byrjalsen A et al.

Plos Genetics, 2020

Exome-based search for recurrent disease-causing alleles in Russian population.

Yanus GA et al.

European Journal of Medical Genetics, 2019

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

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."