Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.W585*
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POLG

NM_002693.3:p.W585*

Associated Papers

A case of drug-induced parkinsonism and tardive akathisia with e1143g polymerase γ mutation-innocent bystander or a culprit?

Idiculla PS et al.

Journal of Clinical and Translational Research, 2021

Nuclear Genes Associated with Mitochondrial DNA Processes as Contributors to Parkinson's Disease Risk.

Müller-Nedebock AC et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans.

Lee Y et al.

Genes, 2021

POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review.

Hsieh PC et al.

Brain and Behavior, 2019

POLG-related disorders and their neurological manifestations.

Rahman S et al.

Nature Reviews. Neurology, 2019

POLG1-related levodopa-responsive parkinsonism.

Miguel R et al.

Clinical Neurology and Neurosurgery, 2014

Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations.

Ferreira M et al.

Neuromuscular Disorders : Nmd, 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."