Varaico: Literature-Extracted Genetic Variants

Gene:COQ8A
Variant:p.Q343_V344delins
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COQ8A

NM_020247.5:p.Q343_V344delins

Associated Papers

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

Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion.

Cotta A et al.

Jimd Reports, 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."