PKD1 c.4051_4052del ;(p.R1351Efs*79)

Variant ID: 16-2161115-CCG-C

NM_001009944.2(PKD1):c.4051_4052del;(p.R1351Efs*79)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

Journal Of The American Society Of Nephrology : Jasn
Bergmann, Carsten C; von Bothmer, Jennifer J; Ortiz Brüchle, Nadina N; Venghaus, Andreas A; Frank, Valeska V; Fehrenbach, Henry H; Hampel, Tobias T; Pape, Lars L; Buske, Annegret A; Jonsson, Jon J; Sarioglu, Nanette N; Santos, Antónia A; Ferreira, Jose Carlos JC; Becker, Jan U JU; Cremer, Reinhold R; Hoefele, Julia J; Benz, Marcus R MR; Weber, Lutz T LT; Buettner, Reinhard R; Zerres, Klaus K
Publication Date: 2011-11

Variant appearance in text: PKD1: 4051_4052del; R1351fs
PubMed Link: 22034641
Variant Present in the following documents:
  • Main text
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