Varaico: Literature-Extracted Genetic Variants

Gene:COQ7
Variant:p.R54delFs
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COQ7

NM_016138.5:p.R54delFs

Associated Papers

The treatment of primary CoQ deficiency requires the targeting of multiple pathogenic mechanisms.

González-García P et al.

Communications Medicine, 2025

Time-resolved mitochondrial screen identifies regulatory components of oxidative metabolism.

Zamora-Dorta M et al.

Embo Reports, 2025

New variants expand the neurological phenotype of COQ7 deficiency.

Fabra MA et al.

Journal of Inherited Metabolic Disease, 2024

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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."