Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.T128A
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COQ2

NM_001358921.2:p.T128A

Associated Papers

Primary Coenzyme Q10 Deficiency-Related Ataxias.

Lopriore P et al.

Journal of Clinical Medicine, 2024

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.

Hughes BG et al.

Scientific Reports, 2017

29255295 (PubMed )
Supplement: 41598_2017_17564_MOESM3_ESM.xlsx › COQ2

4-Hydroxybenzoic acid restores CoQ10 biosynthesis in human COQ2 deficiency.

Herebian D et al.

Annals of Clinical and Translational Neurology, 2017

29296619 (PubMed )
Supplement: ACN3-4-902-s001.pdf

The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.

Desbats MA et al.

Human Molecular Genetics, 2016

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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."