Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R457Q
Back to variants list

POLG

NM_002693.3:p.R457Q

Associated Papers

A Scoping Review of POLG-Related Cerebellar Ataxia: Insights and Clinical Perspectives.

Kalampokini S et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2025

41245005 (PubMed )
Supplement: tohm-15-1-1027-s1.pdf

Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report.

Franklin AD et al.

Frontiers in Genetics, 2021

Asymmetric Ataxia, Depression, Memory Loss, Epilepsy, and Axonal Neuropathy Associated with A Heterozygous DNA Polymerase Gamma Variant of Uncertain Significance, c1370G>a (R457Q).

Jerath NU et al.

Journal of Neuromuscular Diseases, 0

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."