MTPAP, mitochondrial poly(A) polymerase, 55149

N. diseases: 104; N. variants: 2
Disease: Encephalopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.010 GeneticVariation group BEFREE Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy. 31779033 2019