Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.Q1102P
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POLG

NM_002693.3:p.Q1102P

Associated Papers

Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.

Kristensen E et al.

Journal of Inherited Metabolic Disease, 2025

Presentation, Treatment, and Outcome of a First Stroke-like Episode in a Carrier of the Compound Heterozygous Variants c.695G_A and c.2209G_C in POLG: A Case Report.

Zieglgänsberger D et al.

Cureus, 2025

Genome sequencing reanalysis increases the diagnostic yield in dystonia.

Fellner A et al.

Parkinsonism & Related Disorders, 2024

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

Legati A et al.

Current Neurology and Neuroscience Reports, 2023

Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present.

Qiu J et al.

Journal of Movement Disorders, 2021

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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."