Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.P157S
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COQ2

NM_015697.9:p.P157S

Associated Papers

Prenatal Diagnosis of COQ2 Variants in Suspected Coenzyme Q10 Deficiency.

Feng Z et al.

Kidney International Reports, 2025

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

Kurata K et al.

American Journal of Ophthalmology Case Reports, 2022

Redefining infantile-onset multisystem phenotypes of coenzyme Q10-deficiency in the next-generation sequencing era.

Berardo A et al.

Journal of Translational Genetics and Genomics, 2020

COQ2 variants in Parkinson's disease and multiple system atrophy.

Mikasa M et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2018

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

Wen XD et al.

Cns Neuroscience & Therapeutics, 2015

Analysis of COQ2 gene in multiple system atrophy.

Ogaki K et al.

Molecular Neurodegeneration, 2014

Mutant COQ2 in multiple-system atrophy.

Mitsui J et al.

The New England Journal of Medicine, 2014

Mutant COQ2 in multiple-system atrophy.

Jeon BS et al.

The New England Journal of Medicine, 2014

Mutant COQ2 in multiple-system atrophy.

Sharma M et al.

The New England Journal of Medicine, 2014

Mutant COQ2 in multiple-system atrophy.

Schottlaender LV et al.

The New England Journal of Medicine, 2014

Mutant COQ2 in multiple-system atrophy.

Quinzii CM et al.

The New England Journal of Medicine, 2014

Mutations in COQ2 in familial and sporadic multiple-system atrophy.

Unknown Author

The New England Journal of Medicine, 2013

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