Varaico: Literature-Extracted Genetic Variants

Gene:MTO1
Variant:p.Q420_G421Splc
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MTO1

NM_012123.4:p.Q420_G421Splc

Associated Papers

Mitochondrial translation requires folate-dependent tRNA methylation.

Morscher RJ et al.

Nature, 2018

The genotypic and phenotypic spectrum of MTO1 deficiency.

O'Byrne JJ et al.

Molecular Genetics and Metabolism, 2018

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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."