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Multifaceted Analysis of Noncoding and Coding De Novo Variants Implicates NOTCH Signaling Pathway in Tetralogy of Fallot in Chinese Population

Qiongfen Lin, Detao Zhang,Peter J. Gruber,Paul Kwong-hang Tam, Vincent Chi-hang Lui,Zhongluan Wu,Haifa Hong,Kenneth R. Chien,Pak Chung Sham,Clara Sze-man Tang

Human Genetics and Genomics Advances（2025）

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关键词
Tetralogy of Fallot,noncoding variants,cardiac enhancers,NOTCH signaling pathway
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