Disease: Epileptic encephalopathy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
0.700 CausalMutation CLINVAR Clinical and molecular characterization of de novo loss of function variants in HNRNPU. 28815871 2017