What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations?
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DOI: 10.1111/eva.12851
Abstract: Mitochondrial disorders are heterogeneous, showing variable presentation and penetrance. Over the last three decades, our ability to recognize mitochondrial patients and diagnose these mutations, linking genotype to phenotype, has greatly improved. However, it has become… read more here.
Keywords: mtdna; point mutations; disease; mtdna mutations ... See more keywords