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Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants?

M Pilar Bayona-Bafaluy1,2,3,4, Ester López-Gallardo1,2,3, Sonia Emperador1,2,3

  • 1Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009 and 50013, Zaragoza, Spain.

Orphanet Journal of Rare Diseases
|August 19, 2022
PubMed

Keywords:
Mitochondrial DNAPathological variantsPopulation frequency

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