PKD1 c.11258G>T ;(p.R3753L)

Variant ID: 16-2142492-C-A

NM_001009944.2(PKD1):c.11258G>T;(p.R3753L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Journal Of The American Society Of Nephrology : Jasn
Rossetti, Sandro S; Hopp, Katharina K; Sikkink, Robert A RA; Sundsbak, Jamie L JL; Lee, Yean Kit YK; Kubly, Vickie V; Eckloff, Bruce W BW; Ward, Christopher J CJ; Winearls, Christopher G CG; Torres, Vicente E VE; Harris, Peter C PC
Publication Date: 2012-05

Variant appearance in text: PKD1: 11258G>T; Arg3753Leu
PubMed Link: 22383692
Variant Present in the following documents:
  • Main text
View BVdb publication page