Disease: POLG mutation ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
POLG mutation
CUI: C3888962
Disease: POLG mutation
0.010 GeneticVariation BEFREE The novel homozygous p.M797I POLG mutation is responsible for MNGIE combined to optic atrophy and mtDNA depletion in the two patients. 30395865 2019