Varaico: Literature-Extracted Genetic Variants

Gene:COQ8A
Variant:p.S582fs
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COQ8A

NM_020247.5:p.S582fs

Associated Papers

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Bisarad P et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3

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

Hughes BG et al.

Scientific Reports, 2017

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Alazami AM et al.

Cell Reports, 2015

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