PKD1 c.74dup ;(p.G27Rfs*87)

Variant ID: 16-2185616-G-GC

NM_001009944.2(PKD1):c.74dup;(p.G27Rfs*87)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.

Bmc Medical Genetics
He, Wen-Bin WB; Xiao, Wen-Juan WJ; Tan, Yue-Qiu YQ; Zhao, Xiao-Meng XM; Li, Wen W; Zhang, Qian-Jun QJ; Zhong, Chang-Gao CG; Li, Xiu-Rong XR; Hu, Liang L; Lu, Guang-Xiu GX; Lin, Ge G; Du, Juan J
Publication Date: 2018-10-17

Variant appearance in text: PKD1: 74dupG
PubMed Link: 30333007
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_693.pdf
View BVdb publication page