Disease causing property analyzation of variants in 12 Chinese families with polycystic kidney disease

ConclusionThe four novel variants inPKD1, c.6930delG:p.C2311Vfs*3, c.1216T>C:p.C406R, c.8548T>C:p.S2850P, and c.3865G>A:p.V1289M (NM_001009944.2) are pathogenic variants and cause autosomal dominant polycystic kidney disease in family.

Source: Molecular Genetics & Genomic Medicine - September 23, 2020 Category: Genetics & Stem Cells Authors: Kexian Dong, Xiaogang Liu, Xueyuan Jia, Huanhuan Miao, Wei Ji, Jie Wu, Yun Huang, Lidan Xu, Xuelong Zhang, Hui Su, Guohua Ji, Peng Liu, Rongwei Guan, Jing Bai, Songbin Fu, Xianli Zhou, Wenjing Sun Tags: ORIGINAL ARTICLE Source Type: research