Varaico: Literature-Extracted Genetic Variants

Gene:COQ8A
Variant:p.S541P
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COQ8A

NM_020247.5:p.S541P

Associated Papers

Case Report: Myoclonic and tremulous movements associated with COQ8A-related coenzyme Q10 deficiency type 4.

Wang D et al.

Frontiers in Genetics, 2025

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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."