Varaico: Literature-Extracted Genetic Variants

Gene:COQ9
Variant:p.R202del1
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COQ9

NM_020312.4:p.R202del1

Associated Papers

Primary Coenzyme Q10 Deficiency: An Update.

Mantle D et al.

Antioxidants (basel, Switzerland), 2023

A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.

Smith AC et al.

Journal of Inherited Metabolic Disease, 2018

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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."