Varaico: Literature-Extracted Genetic Variants

Gene:COQ9
Variant:p.G129fs
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COQ9

NM_020312.4:p.G129fs

Associated Papers

Two cases of neonatal hyperglycemia caused by a homozygous COQ9 stop-gain variant.

Donis R et al.

Journal of Diabetes Investigation, 2025

Primary Coenzyme Q10 Deficiency: An Update.

Mantle D et al.

Antioxidants (basel, Switzerland), 2023

A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation.

Olgac A et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020

Redefining infantile-onset multisystem phenotypes of coenzyme Q10-deficiency in the next-generation sequencing era.

Berardo A et al.

Journal of Translational Genetics and Genomics, 2020

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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."