Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.V66L
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COQ2

NM_015697.9:p.V66L

Associated Papers

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome.

Fareed M et al.

Scientific Reports, 2021

New Mutation of Coenzyme Q10 Monooxygenase 6 Causing Podocyte Injury in a Focal Segmental Glomerulosclerosis Patient.

Song CC et al.

Chinese Medical Journal, 2018

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

Mikasa M et al.

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

Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome.

Yoo DH et al.

Mitochondrion, 2017

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

Definite familial multiple system atrophy with unknown genetics.

Itoh K et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2014

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

Unknown Author

The New England Journal of Medicine, 2013

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