Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.E856K
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POLG

NM_002693.3:p.E856K

Associated Papers

Parkinson's Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA.

Legati A et al.

Current Neurology and Neuroscience Reports, 2023

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

American Association of Neuropathologists, Inc. Abstracts of the 97th Annual Meeting June 10-13, 2021 St. Louis, Missouri.

Unknown Author

Journal of Neuropathology and Experimental Neurology, 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

Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations.

Masingue M et al.

Mitochondrion, 2019

Juvenile onset Parkinsonism with "pure nigral" degeneration and POLG1 mutation.

Mehta SH et al.

Parkinsonism & Related Disorders, 2016

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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."