Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.010 GeneticVariation group BEFREE NGS-based analysis of a gene panel for mitochondrial disorders revealed a homozygous c.892C>T (p. Arg298<sup>*</sup>) in the <i>MFF</i> gene. 30581454 2018