Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.M919T
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POLG

NM_002693.3:p.M919T

Associated Papers

Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling.

Zhou F et al.

Brain and Behavior, 2025

Clinical and Molecular Features of POLG-Related Sensory Ataxic Neuropathy with Dysarthria and Ophthalmoparesis.

Li LX 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

Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations.

Masingue M et al.

Mitochondrion, 2019

POLG-related disorders and their neurological manifestations.

Rahman S et al.

Nature Reviews. Neurology, 2019

The wide POLG-related spectrum: An integrated view.

Béreau M et al.

Journal of the Neurological Sciences, 2016

A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.

Tchikviladzé M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2015

Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction.

Amiot A et al.

Gastroenterology, 2009

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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."