Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.Q264H
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POLG

NM_002693.3:p.Q264H

Associated Papers

The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders.

Gilea AI et al.

Iubmb Life, 2023

DNA polymerase γ and disease: what we have learned from yeast.

Lodi T et al.

Frontiers in Genetics, 2015

25852747 (PubMed )
Supplement: Table1.DOCX

MMS exposure promotes increased MtDNA mutagenesis in the presence of replication-defective disease-associated DNA polymerase γ variants.

Stumpf JD et al.

Plos Genetics, 2014

The exonuclease activity of the yeast mitochondrial DNA polymerase γ suppresses mitochondrial DNA deletions between short direct repeats in Saccharomyces cerevisiae.

Stumpf JD et al.

Genetics, 2013

Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.

Stumpf JD et al.

Cellular and Molecular Life Sciences : Cmls, 2011

A cluster of pathogenic mutations in the 3'-5' exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation.

Szczepanowska K et al.

Human Molecular Genetics, 2010

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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."