RIT1, Ras like without CAAX 1, 6016

N. diseases: 184; N. variants: 18
Disease: Atresia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0243066
Disease: Atresia
Atresia 		0.010 GeneticVariation disease BEFREE Here we report for the first time, a case of congenital left main coronary artery atresia in a Noonan syndrome associated with RIT1 variant, leading to unrescued sudden death. 28347726 2017