RERE, arginine-glutamic acid dipeptide repeats, 473

N. diseases: 215; N. variants: 48
Disease: MELAS Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.010 GeneticVariation disease BEFREE Two of the mutations were novel transitions, 10438A>G in the tRNA(Arg) gene and 14696A>G in the tRNA(Glu) gene, whereas the third one was 3243A>G, the common MELAS mutation. 15286228 2004