Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.G1052S
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POLG

NM_002693.3:p.G1052S

Associated Papers

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

Kristensen E et al.

Journal of Inherited Metabolic Disease, 2025

Hepatic presentations of mitochondrial DNA depletion syndrome in children: A single tertiary liver centre experience.

Vara R et al.

Journal of Inherited Metabolic Disease, 2023

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.

Papandreou A et al.

Journal of Inherited Metabolic Disease, 2018

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.

Hikmat O et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

The presence of anaemia negatively influences survival in patients with POLG disease.

Hikmat O et al.

Journal of Inherited Metabolic Disease, 2017

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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."