PKD1 c.6152G>C ;(p.R2051P)

Variant ID: 16-2159016-C-G

NM_001009944.2(PKD1):c.6152G>C;(p.R2051P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Induced pluripotent stem cells from polycystic kidney disease patients: a novel tool to model the pathogenesis of cystic kidney disease.

Journal Of The American Society Of Nephrology : Jasn
Hofherr, Alexis A; Köttgen, Michael M
Publication Date: 2013-10

Variant appearance in text: PKD1: R2051P
PubMed Link: 24009236
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reduced ciliary polycystin-2 in induced pluripotent stem cells from polycystic kidney disease patients with PKD1 mutations.

Journal Of The American Society Of Nephrology : Jasn
Freedman, Benjamin S BS; Lam, Albert Q AQ; Sundsbak, Jamie L JL; Iatrino, Rossella R; Su, Xuefeng X; Koon, Sarah J SJ; Wu, Maoqing M; Daheron, Laurence L; Harris, Peter C PC; Zhou, Jing J; Bonventre, Joseph V JV
Publication Date: 2013-10

Variant appearance in text: PKD1: R2051P
PubMed Link: 24009235
Variant Present in the following documents:
  • Main text
View BVdb publication page