Varaico: Literature-Extracted Genetic Variants

Gene:COQ8A
Variant:p.E568*
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COQ8A

NM_020247.5:p.E568*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Mitochondrial Dysfunction due to Novel COQ8A Variation with Poor Response to CoQ10 Treatment: A Comprehensive Study and Review of Literatures.

Wang J et al.

Cerebellum (london, England), 2024

Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.

Traschütz A et al.

Annals of Neurology, 2020

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_MOESM1_ESM.xlsx › Table_S3

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-8.xlsx › S_Data_7
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