Gene: EP300 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2033
Gene Symbol: EP300
EP300 		0.640 CausalMutation disease CLINVAR From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks. 26486927 2016