Disease causing property analyzation of variants in 12 Chinese families with polycystic kidney disease.
Kexian DongXiaogang LiuXueyuan JiaHuanhuan MiaoWei JiJie WuYun HuangLidan XuXuelong ZhangHui SuGuohua JiPeng LiuRongwei GuanJing BaiSongbin FuXianli ZhouWenjing SunPublished in: Molecular genetics & genomic medicine (2020)
The four novel variants in PKD1, 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.