PKD1 c.12671_12674del ;(p.T4224Sfs*133)

Variant ID: 16-2139965-CTGGG-C

NM_001009944.2(PKD1):c.12671_12674del;(p.T4224Sfs*133)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.

Plos One
Eisenberger, Tobias T; Decker, Christian C; Hiersche, Milan M; Hamann, Ruben C RC; Decker, Eva E; Neuber, Steffen S; Frank, Valeska V; Bolz, Hanno J HJ; Fehrenbach, Henry H; Pape, Lars L; Toenshoff, Burkhard B; Mache, Christoph C; Latta, Kay K; Bergmann, Carsten C
Publication Date: 2015

Variant appearance in text: PKD1: 12671_12674del; Thr4224Serfs
PubMed Link: 25646624
Variant Present in the following documents:
  • Main text
  • pone.0116680.pdf
View BVdb publication page