Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.K512M
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POLG

NM_002693.3:p.K512M

Associated Papers

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

POLG-related disorders and their neurological manifestations.

Rahman S et al.

Nature Reviews. Neurology, 2019

Parkinsonism, cognitive deficit and behavioural disturbance caused by a novel mutation in the polymerase gamma gene.

Delgado-Alvarado M et al.

Journal of the Neurological Sciences, 2015

POLG1-related levodopa-responsive parkinsonism.

Miguel R et al.

Clinical Neurology and Neurosurgery, 2014

Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism.

Dolhun R et al.

Bmc Neurology, 2013

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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."