A loss-of-function mutation p.T256M in NDRG4 is implicated in the pathogenesis of pulmonary atresia with ventricular septal defect (PA/VSD) and tetralogy of Fallot (TOF).
Peng J, Wang Q, Meng Z, Wang J, Zhou Y, Zhou S, Song W, Chen S, Chen AF, Sun K. FEBS Open Bio. 2021 Feb; 11(2):375-385. Epub 2021 Jan 9.