Pathogenic mitochondrial DNA 3243A>G mutation: From genetics to phenotype
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DOI: 10.3389/fgene.2022.951185
Abstract: The mitochondrial DNA (mtDNA) m.3243A>G mutation is one of the most common pathogenic mtDNA variants, showing complex genetics, pathogenic molecular mechanisms, and phenotypes. In recent years, the prevention of mtDNA-related diseases has trended toward precision… read more here.
Keywords: 3243a mutation; mitochondrial dna; genetics phenotype; mutation genetics ... See more keywords