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Table 4 Comparison of R25C mutation cumulative rates between TOF and ASD cohorts

From: Screening of NKX2.5 gene in Moroccan Tetralogy of Fallot (TOF) patients: worldwide mutation rate comparisons show a significant association between R25C variant and TOF phenotype

Population

R25C mutation rate in TOF population (%)

R25C mutation rate in ASD population (%)

Reference

Australian/American

0/102

[30]

American

4/201

0/71

[14]

American

1/20

0/16

[13]

American

3/150

[8]

Brazilian

1/58

0/17

[21]

Chinese

0/105

[31]

Chinese

0/58

[32]

Chinese

0/15

0/105

[22]

Chinese (Han)

0/50

0/33

[23]

Egyptian

1/15

[18]

Egyptian

1/10

0/8

[17]

German

2/182

[20]

German

0/8

0/17

[33]

Italian

0/29

[34]

Japanese

0/125

[24]

Japanese

0/16

[35]

Lebanese

1/30

2/25

[36]

Turkish

1/22

[19]

Cumulative rate

15/886 (1.7%)

2/602 (0.3%)

p value*

0.015**

 
  1. *Relative to cumulative rates comparison
  2. **Significant difference