Disease: Maturation defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334070
Disease: Maturation defect
Maturation defect 		0.010 GeneticVariation phenotype BEFREE A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage-dependent sodium channel. 29992740 2018