Disease: Malnutrition ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.020 GeneticVariation disease BEFREE We report a term infant with ABCA3 surfactant deficiency syndrome with the E292V (c.875A>T; p.Glu292Val) mutation in trans with a novel C-terminal frame shift mutation (c.4938delC; p.Met1647fs). 29566461 2018
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.020 GeneticVariation disease BEFREE In this study, we investigated in HEK293 cells the intracellular localization and N-glycosylation of the ABCA3 mutants so far identified in fatal surfactant deficiency patients. 16959783 2006