PKD1 c.4969del ;(p.R1657Gfs*65)

Variant ID: 16-2160199-CT-C

NM_001009944.2(PKD1):c.4969del;(p.R1657Gfs*65)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Cystic renal-epithelial derived induced pluripotent stem cells from polycystic kidney disease patients.

Stem Cells Translational Medicine
Kenter, Annegien T AT; Rentmeester, Eveline E; van Riet, Job J; Boers, Ruben R; Boers, Joachim J; Ghazvini, Mehrnaz M; Xavier, Vanessa J VJ; van Leenders, Geert J L H GJLH; Verhagen, Paul C M S PCMS; van Til, Marjan E ME; Eussen, Bert B; Losekoot, Monique M; de Klein, Annelies A; Peters, Dorien J M DJM; van IJcken, Wilfred F J WFJ; van de Werken, Harmen J G HJG; Zietse, Robert R; Hoorn, Ewout J EJ; Jansen, Gert G; Gribnau, Joost H JH
Publication Date: 2020-04

Variant appearance in text: PKD1: 4969delA; Arg1657fs
PubMed Link: 32163234
Variant Present in the following documents:
  • Main text
  • SCT3-9-478.pdf
View BVdb publication page