Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.R173H
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COQ2

NM_015697.9:p.R173H

Associated Papers

Prenatal Diagnosis of COQ2 Variants in Suspected Coenzyme Q10 Deficiency.

Feng Z et al.

Kidney International Reports, 2025

Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.

Lee GY et al.

Kidney International Reports, 2025

An AlphaFold Structure Analysis of COQ2 as Key a Component of the Coenzyme Q Synthesis Complex.

Vargas-Pérez MLÁ et al.

Antioxidants (basel, Switzerland), 2024

Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency.

Stallworth JY et al.

Ophthalmic Genetics, 2023

Retinitis pigmentosa with optic neuropathy and COQ2 mutations: A case report.

Kurata K et al.

American Journal of Ophthalmology Case Reports, 2022

Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.

Abdelhakim AH et al.

Orphanet Journal of Rare Diseases, 2020

Mutation Analysis of COQ2 in Chinese Patients with Cerebellar Subtype of Multiple System Atrophy.

Wen XD et al.

Cns Neuroscience & Therapeutics, 2015

Mutation scanning of the COQ2 gene in ethnic Chinese patients with multiple-system atrophy.

Chen YP et al.

Neurobiology of Aging, 2015

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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."