Varaico: Literature-Extracted Genetic Variants

Gene:POLH
Variant:p.K224delFs
Back to variants list

POLH

NM_006502.3:p.K224delFs

Associated Papers

XPC and POLH/XPV Genes Mutated in a Genetic Cluster of Xeroderma Pigmentosum Patients in Northeast Brazil.

Castro LP et al.

Frontiers in Genetics, 2021

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

Lerner LK et al.

Scientific Reports, 2020

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."