Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Infantile Severe Myoclonic Epilepsy
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
0.010 GeneticVariation BEFREE In contrast, two other GEFS+ mutations (A1685V and V1353L) and L986F, an SMEI-associated allele, exhibited complete loss of function. 14672992 2003