Varaico: Literature-Extracted Genetic Variants

Gene:MTO1
Variant:p.T352M
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MTO1

NM_012123.4:p.T352M

Associated Papers

Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes.

Monda E et al.

International Journal of Molecular Sciences, 2023

A novel compound heterozygous mutation of the MTO1 gene associated with complex oxidative phosphorylation deficiency type 10.

Luo Q et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021

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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."