Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant

por Dou, Qian, Xu, HongEn, Ma, LiYing, Tan, Li, Tang, WenXue
Publicado 2023

A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome

por Xu, Chang Bao, Zhou, Xu Dong, Xu, Hong En, Zhao, Yong Li, Zhao, Xing Hua, Liu, Dan Hua, Tian, Yong An, Hu, Xin Xin, Guan, Jing Yuan, Guo, Jian Cheng, Tang, Wen Xue, Xue, Xia
Publicado 2021

A Novel Mutation in the TECTA Gene in a Chinese Family with Autosomal Dominant Nonsyndromic Hearing Loss

por Su, Yu, Tang, Wen-Xue, Gao, Xue, Yu, Fei, Dai, Zhi-Yao, Zhao, Jian-Dong, Lu, Yu, Ji, Fei, Huang, Sha-Sha, Yuan, Yong-Yi, Han, Ming-Yu, Song, Yue-Shuai, Zhu, Yu-Hua, Kang, Dong-Yang, HAN, Dong-Yi, Dai, Pu
Publicado 2014