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September 21, 2018Journal of Translational MedicineOpen Access

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

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Authors

NHNanchao HongEZErge ZhangQWQingjie Wang

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Hong et al. (2018) studied this question.

synapsesocial.com/papers/6a9cf953195478bb20a8aec4https://doi.org/10.1186/s12967-018-1633-1
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  3. 3In vivo response to high-resolution variation of Tbx1 mRNA dosage2007 · 125 citations
  4. 4A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease2015 · 60 citations
  5. 5Novel TBX1loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion2014 · 31 citations