Functional Characterization of a Missense Variant of MLH1 Identified in Lynch Syndrome Pedigree

by Tahir Zaib, Chunhui Zhang, Komal Saleem, Lidan Xu, Qian Qin, Yusi Wang, Wei Ji, Hanif Khan, Hanfei Yu, Siqi Zhu, Wei Gao, Yun Huang, Xueyuan Jia, Jie Wu, Hongtao Song, Yanqiao Zhang, Wenjing Sun, Songbin Fu
Published 2020-01-01

A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family

by Tahir Zaib, Wei Ji, Komal Saleem, Guangchen Nie, Chao Li, Lin Cao, Baijun Xu, Kexian Dong, Hanfei Yu, Xuguang Hao, Yan Xue, Shuhan Si, Xueyuan Jia, Jie Wu, Xuelong Zhang, Rongwei Guan, Guohua Ji, Jing Bai, Feng Chen, Yong Liu, Wenjing Sun, Songbin Fu
Published 2019-12-01