Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.A510V
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POLG

NM_002693.3:p.A510V

Associated Papers

Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson's Disease.

Lucchesi M et al.

International Journal of Molecular Sciences, 2025

Diagnosis of hereditary ataxias: a real-world single center experience.

Meli A et al.

Journal of Neurology, 2025

Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis.

Lopriore P et al.

Movement Disorders Clinical Practice, 2024

Molecular epidemiology of hereditary ataxia in Finland.

Lipponen J et al.

Bmc Neurology, 2021

Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.

De la Casa-Fages B et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2019

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.

Sun M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."