Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.H613Y
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POLG

NM_002693.3:p.H613Y

Associated Papers

Protein Nitration in Patients with Mitochondrial Diseases.

Livramento JB et al.

Antioxidants (basel, Switzerland), 2025

Gene Panel Sequencing Analysis Revealed a Strong Contribution of Rare Coding Variants to the Risk of Parkinson's Disease in Sporadic Moroccan Patients.

Smaili I et al.

Journal of Molecular Neuroscience : Mn, 2023

Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.

Oluwole OG et al.

Bmc Medical Genetics, 2020

Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.

Da Pozzo P et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2017

Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae.

Baruffini E et al.

Mitochondrion, 2015

25462018 (PubMed )
Supplement: mmc2.doc

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1312.477
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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."