Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts

NOTCH1基因的功能丧失、错义突变和内含子变异对两个欧洲人群左心室流出道梗阻性心脏缺陷的风险影响不同。