Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R227Q
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POLG

NM_002693.3:p.R227Q

Associated Papers

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

Kristensen E et al.

Journal of Inherited Metabolic Disease, 2025

Response to: POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotypes.

Altuntaş C et al.

Clinical Neurology and Neurosurgery, 2024

POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotype.

Finsterer J

Clinical Neurology and Neurosurgery, 2024

A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy.

Altuntaş C et al.

Clinical Neurology and Neurosurgery, 2023

Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers' Syndrome Genotypes.

Li H et al.

Frontiers in Pharmacology, 2021

[Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes].

Dai LF et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019

Lethal neonatal mitochondrial phenotype caused by a novel polymerase subunit gamma mutation: A case report.

AlJabri MF et al.

Medicine, 2018

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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."