Publications:

Gene panel for Mendelian strokes.

Stroke And Vascular Neurology

Fang, Fang F; Xu, Zhe Z; Suo, Yue Y; Wang, Hui H; Cheng, Si S; Li, Hao H; Li, Wei W; Wang, Yongjun Y

Publication Date: 2020-12

Variant appearance in text: PKD1: 7480G>A; E2494K

PubMed Link: 32341005

Variant Present in the following documents:

• svn-2020-000352supp003.pdf

View BVdb publication page

Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.

Molecular Genetics & Genomic Medicine

Wang, Tao T; Li, Qinggang Q; Shang, Shunlai S; Geng, Guangrui G; Xie, Yuansheng Y; Cai, Guangyan G; Chen, Xiangmei X

Publication Date: 2019-06

Variant appearance in text: PKD1: 7480G>A; Glu2494Lys

PubMed Link: 31056860

Variant Present in the following documents:

• Main text
• MGG3-7-e720.pdf

View BVdb publication page