PKD1 c.9994_10000del ;(p.V3332Ifs*63)

Variant ID: 16-2149695-TAGACAAC-T

NM_001009944.2(PKD1):c.9994_10000del;(p.V3332Ifs*63)

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: PKD1: Val3332fs*63
PubMed Link: 29338003
Variant Present in the following documents:
  • Main text
  • pone.0190430.pdf
View BVdb publication page