TG c.4551C>A ;(p.N1517K)

Variant ID: 8-133935605-C-A

NM_003235.4(TG):c.4551C>A;(p.N1517K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The prevalence of autosomal dominant polycystic kidney disease (ADPKD): A meta-analysis of European literature and prevalence evaluation in the Italian province of Modena suggest that ADPKD is a rare and underdiagnosed condition.

Plos One
Solazzo, Andrea A; Testa, Francesca F; Giovanella, Silvia S; Busutti, Marco M; Furci, Luciana L; Carrera, Paola P; Ferrari, Maurizio M; Ligabue, Giulia G; Mori, Giacomo G; Leonelli, Marco M; Cappelli, Gianni G; Magistroni, Riccardo R
Publication Date: 2018

Variant appearance in text: TG: 4551C>A
PubMed Link: 29338003
Variant Present in the following documents:
  • Main text
  • pone.0190430.pdf
View BVdb publication page