Varaico: Literature-Extracted Genetic Variants

Gene:COX20
Variant:p.K52Q
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COX20

NM_001312873.1:p.K52Q

Associated Papers

Compound Heterozygous COX20 Variants Impair the Function of Mitochondrial Complex IV to Cause a Syndrome Involving Ophthalmoplegia and Visual Failure.

Li P et al.

Frontiers in Neurology, 2022

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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."