Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.L592F
Back to variants list

POLG

NM_002693.3:p.L592F

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

Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype-Phenotype Correlation of POLG c.3286C>T Variant.

Sriwattanapong K et al.

International Journal of Neonatal Screening, 2021

A novel POLG gene mutation in a patient with SANDO.

Kurt B et al.

Journal of Experimental and Integrative Medicine, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."