Varaico: Literature-Extracted Genetic Variants

Gene:MTO1
Variant:p.G204E
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MTO1

NM_012123.4:p.G204E

Associated Papers

Mitochondrial tRNA-Derived Diseases.

Petropoulou A et al.

International Journal of Molecular Sciences, 2025

Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.

Charif M et al.

American Journal of Medical Genetics. Part A, 2015

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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."