A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome
Chang Xu(Southwest Jiaotong University), Xia Xue(Zhengzhou University), Wenxue Tang(Second Affiliated Hospital of Zhengzhou University), Jian Cheng Guo(Zhengzhou University), Hongen Xu(Zhengzhou University), Dan Hua Liu(Second Affiliated Hospital of Zhengzhou University), Jing Guan(Children's Hospital of Fudan University), Xu Zhou(Hunan Provincial Maternal and Child Health Hospital), Xin Hu(Shanghai Medical College of Fudan University), Yong Tian(Chinese Academy of Sciences), Yong Li Zhao(Second Affiliated Hospital of Zhengzhou University), Xing Zhao(Sichuan University)
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