A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication.
Hong N, Zhang E, Wang Q, Zhang X, Li F, Fu Q, Xu R, Yu Y, Chen S, Xu Y, et al. J Transl Med. 2018 Sep 21; 16(1):260. Epub 2018 Sep 21.