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Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing. by Hao Deng, Qian Lu, Hongbo Xu, Xiong Deng, Lamei Yuan, Zhijian Yang, Yi Guo, Qiongfen Lin, Jingjing Xiao, Liping Guan, Zhi Song
Published 2016-01-01Get full text
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Multifaceted analysis of noncoding and coding de novo variants implicates NOTCH signaling pathway in tetralogy of Fallot in Chinese population by 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
Published 2025-04-01Get full text
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