Varaico: Literature-Extracted Genetic Variants

Gene:POLG2
Variant:p.H323_G324Splc
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POLG2

NM_007215.4:p.H323_G324Splc

Associated Papers

POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.

Borsche M et al.

Cerebellum (london, England), 2024

37085601 (PubMed )
Supplement: 12311_2023_1557_MOESM1_ESM.xlsx › Table_S2

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

Legati A et al.

Current Neurology and Neuroscience Reports, 2023

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

POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.

Van Maldergem L et al.

Annals of Clinical and Translational Neurology, 2017

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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."