Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.K319E
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POLG

NM_002693.3:p.K319E

Associated Papers

Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.

Gorman E et al.

Frontiers in Genetics, 2025

40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2

A high prevalence of arterial hypertension in patients with mitochondrial diseases.

Chong-Nguyen C et al.

Journal of Inherited Metabolic Disease, 2020

POLG-related disorders and their neurological manifestations.

Rahman S et al.

Nature Reviews. Neurology, 2019

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

Tang S et al.

Journal of Medical Genetics, 2011

SANDO: two novel mutations in POLG1 gene.

Gago MF et al.

Neuromuscular Disorders : Nmd, 2006

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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."