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Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ 10 deficiency: an underdiagnosed cause of mitochondriopathy

The genetic association between the genes encoding methionine synthase and N5,10-methylenetetrahydrofolate reductase suggests a close relationship between these enzymes and the tetrahydrofolate metabolism (Figure 2) [14, 15, 16, 17]

However, bridging the gap to human clinical application is where the "science" gets complicated

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