Varaico: Literature-Extracted Genetic Variants

Gene:COX6A2
Variant:p.S39R
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COX6A2

NM_005205.4:p.S39R

Associated Papers

Molecular Genetics Overview of Primary Mitochondrial Myopathies.

Arena IG et al.

Journal of Clinical Medicine, 2022

Complex IV subunit isoform COX6A2 protects fast-spiking interneurons from oxidative stress and supports their function.

Sanz-Morello B et al.

The Embo Journal, 2020

COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.

Inoue M et al.

Annals of Neurology, 2019

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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."