Varaico: Literature-Extracted Genetic Variants

Gene:COQ7
Variant:p.M135V
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COQ7

NM_016138.5:p.M135V

Associated Papers

Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels in C. elegans.

Ősz F et al.

Antioxidants (basel, Switzerland), 2025

Fetal and obstetrics manifestations of mitochondrial diseases.

Adelizzi A et al.

Journal of Translational Medicine, 2024

COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.

Pettenuzzo I et al.

European Journal of Human Genetics : Ejhg, 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."