PKD1 c.7126C>T ;(p.Q2376*)

Variant ID: 16-2156889-G-A

NM_001009944.2(PKD1):c.7126C>T;(p.Q2376*)

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: 7126C>T; Gln2376*
PubMed Link: 30333007
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_693.pdf
View BVdb publication page