PKD1 c.373A>G ;(p.N125D)

Variant ID: 16-2168833-T-C

NM_001009944.2(PKD1):c.373A>G;(p.N125D)

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: 373A>G; Asn125Asp
PubMed Link: 22383692
Variant Present in the following documents:
  • Main text
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