Varaico: Literature-Extracted Genetic Variants

Gene:COQ6
Variant:p.Y412C
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COQ6

NM_182476.3:p.Y412C

Associated Papers

Cellular Models for Primary CoQ Deficiency Pathogenesis Study.

Santos-Ocaña C et al.

International Journal of Molecular Sciences, 2021

A Family Segregating Lethal Primary Coenzyme Q10 Deficiency Due to Two Novel COQ6 Variants.

Wang N et al.

Frontiers in Genetics, 2021

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 › COQ6

Coenzyme Q Biosynthesis: Evidence for a Substrate Access Channel in the FAD-Dependent Monooxygenase Coq6.

Ismail A et al.

Plos Computational Biology, 2016

Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency.

Doimo M et al.

Biochimica Et Biophysica Acta, 2014

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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."