Table 2 Allele frequency of c.303-305delGAA of TBX1 in cohort 2 (CTDs patients = 594, control = 377).

From: A 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity

 

Frequency of SNP ((%)n)

c.303-305delGAA

Non del

patients

1.2% (14)

98.8% (1174)

control

0.3% (2)

99.7% (752)

χ2

4.708

*P

0.037

  1. *P-value was calculated using Fisher’s exact test.
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