Varaico: Literature-Extracted Genetic Variants

Gene:COQ8A
Variant:p.Q343*
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COQ8A

NM_020247.5:p.Q343*

Associated Papers

Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.

Kim SH et al.

Journal of Korean Medical Science, 2025

Mitochondrial Dysfunction due to Novel COQ8A Variation with Poor Response to CoQ10 Treatment: A Comprehensive Study and Review of Literatures.

Wang J et al.

Cerebellum (london, England), 2024

Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.

Shalata A et al.

Neurochemical Research, 2019

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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."