PKD1 c.6670_6672del ;(p.P2224del)

Variant ID: 16-2158496-CAGG-C

NM_001009944.2(PKD1):c.6670_6672del;(p.P2224del)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.

Human Mutation
BorrĂ s, Daniel M DM; Vossen, Rolf H A M RHAM; Liem, Michael M; Buermans, Henk P J HPJ; Dauwerse, Hans H; van Heusden, Dave D; Gansevoort, Ron T RT; den Dunnen, Johan T JT; Janssen, Bart B; Peters, Dorien J M DJM; Losekoot, Monique M; Anvar, Seyed Yahya SY
Publication Date: 2017-07

Variant appearance in text: PKD1: Pro2224del
PubMed Link: 28378423
Variant Present in the following documents:
  • Main text
  • HUMU-38-870-s001.pdf
  • HUMU-38-870.pdf
View BVdb publication page