Varaico: Literature-Extracted Genetic Variants

Gene:COQ4
Variant:p.V8fs
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COQ4

NM_016035.5:p.V8fs

Associated Papers

Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency.

Alcázar-Fabra M et al.

Molecular Genetics and Metabolism Reports, 2025

Clinical syndromes associated with Coenzyme Q10 deficiency.

Alcázar-Fabra M et al.

Essays in Biochemistry, 2018

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_S2
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