Varaico: Literature-Extracted Genetic Variants

Gene:COX11
Variant:p.V12Fs
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COX11

NM_004375.5:p.V12Fs

Associated Papers

Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae.

Caron-Godon CA et al.

International Journal of Molecular Sciences, 2023

Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.

Rius R et al.

Human Mutation, 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."