Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.H945L
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POLG

NM_002693.3:p.H945L

Associated Papers

The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese.

Chen YP et al.

European Journal of Neurology, 2022

35861376 (PubMed )
Supplement: supplement_1.pdf

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

Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database.

Nurminen A et al.

Bba Clinical, 2017

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

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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."