PKD1 c.858_859insTA ;(p.G287*)

Variant ID: 16-2168134-C-CTA

NM_001009944.2(PKD1):c.858_859insTA;(p.G287*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Scientific Reports
Carrera, Paola P; Calzavara, Silvia S; Magistroni, Riccardo R; den Dunnen, Johan T JT; Rigo, Francesca F; Stenirri, Stefania S; Testa, Francesca F; Messa, Piergiorgio P; Cerutti, Roberta R; Scolari, Francesco F; Izzi, Claudia C; Edefonti, Alberto A; Negrisolo, Susanna S; Benetti, Elisa E; Alibrandi, Maria Teresa Sciarrone MT; Manunta, Paolo P; Boletta, Alessandra A; Ferrari, Maurizio M
Publication Date: 2016-08-08

Variant appearance in text: PKD1: Gly287fs*1
PubMed Link: 27499327
Variant Present in the following documents:
  • Main text
  • srep30850-s4.xlsx, sheet 1
View BVdb publication page