Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.Y951F
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POLG

NM_002693.3:p.Y951F

Associated Papers

The POLγ Y951N patient mutation disrupts the switch between DNA synthesis and proofreading, triggering mitochondrial DNA instability.

Forslund JME et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae.

Baruffini E et al.

Mitochondrion, 2015

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

Lodi T et al.

Frontiers in Genetics, 2015

POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria.

Bekheirnia MR et al.

Gene, 2012

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

Tang S et al.

Journal of Medical Genetics, 2011

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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."