Varaico: Literature-Extracted Genetic Variants

Gene:POLH
Variant:p.Y146*
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POLH

NM_006502.3:p.Y146*

Associated Papers

Identification of Frameshift Variants in POLH Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families.

Zamani GY et al.

Genes, 2022

Large deletions in immunoglobulin genes are associated with a sustained absence of DNA Polymerase η.

Lerner LK et al.

Scientific Reports, 2020

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.

Fassihi H et al.

Proceedings of the National Academy of Sciences of the United States of America, 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."