A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome oleh Chang Bao Xu, Xu Dong Zhou, Hong En Xu, Yong Li Zhao, Xing Hua Zhao, Dan Hua Liu, Yong An Tian, Xin Xin Hu, Jing Yuan Guan, Jian Cheng Guo, Wen Xue Tang, Xia Xue