Varaico: Literature-Extracted Genetic Variants

Gene:POLH
Variant:p.S213*
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POLH

NM_006502.3:p.S213*

Associated Papers

Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early-onset dementia.

Soares IFZ et al.

Molecular Genetics & Genomic Medicine, 2020

Regulation of the specialized DNA polymerase eta: revisiting the biological relevance of its PCNA- and ubiquitin-binding motifs.

Despras E et al.

Environmental and Molecular Mutagenesis, 2012

DNA polymerase eta, a key protein in translesion synthesis in human cells.

Cruet-Hennequart S et al.

Sub-cellular Biochemistry, 2010

Ubiquitin-binding domains in Y-family polymerases regulate translesion synthesis.

Bienko M et al.

Science (new York, N.y.), 2005

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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."