Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.V1106A
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POLG

NM_002693.3:p.V1106A

Associated Papers

Activating AMPK improves pathological phenotypes due to mtDNA depletion.

Carvalho G et al.

The Febs Journal, 2025

Genetic heterogeneity and respiratory chain enzyme analysis in pediatric Indian patients with mitochondrial disorder: Report of novel variants in POLG1 gene and their functional implication using molecular dynamic simulation.

Saha D et al.

Mitochondrion, 2024

The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders.

Gilea AI et al.

Iubmb Life, 2023

Clinico-Genetic Spectrum of POLG1 Mutation Carriers from India.

Finsterer J

Journal of Molecular Neuroscience : Mn, 2022

Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India.

Deepha S et al.

Journal of Molecular Neuroscience : Mn, 2021

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort.

Piekutowska-Abramczuk D et al.

Mitochondrion, 2019

Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.

Kaliszewska M et al.

Human Genetics, 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."