Varaico: Literature-Extracted Genetic Variants

Gene:POLH
Variant:p.Y118insFs
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POLH

NM_006502.3:p.Y118insFs

Associated Papers

Whole-Exome Sequencing Enables the Diagnosis of Variant-Type Xeroderma Pigmentosum.

Fang X et al.

Frontiers in Genetics, 2019

Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.

Zhou EY et al.

The Journal of Dermatology, 2017

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."