Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.V191L
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COQ2

NM_015697.9:p.V191L

Associated Papers

Preclinical and first-in-human evidence of 4-hydroxybenzoic acid for mitochondrial COQ2 deficiency.

Distelmaier F et al.

Brain : a Journal of Neurology, 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."