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Table 1 Cardiac diagnoses for study cohorts

From: 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

Diagnosis

Number

Percentage

TOF

231

37.6

PA + VSD

135

21.9

DORV

115

18.7

TGA

91

14.8

IAA

11

1.8

TA

20

3.3

PTA

12

1.9

Total

615

100

  1. TOF tetralogy of Fallot, PA + VSD pulmonary atresia with ventricular septal defect; DORV double outlet of right ventricle, TGA transposition of the great arteries, IAA interrupted aortic arch, TA tricuspid atresia, PTA persistent truncus arteriosus