AQP2 c.673C>G ;(p.P225A)

Variant ID: 12-50349248-C-G

NM_000486.5(AQP2):c.673C>G;(p.P225A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


X-ray structure of human aquaporin 2 and its implications for nephrogenic diabetes insipidus and trafficking.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Frick, Anna A; Eriksson, Urszula Kosinska UK; de Mattia, Fabrizio F; Oberg, Fredrik F; Hedfalk, Kristina K; Neutze, Richard R; de Grip, Willem J WJ; Deen, Peter M T PM; Törnroth-Horsefield, Susanna S
Publication Date: 2014-04-29

Variant appearance in text: AQP2: P225A
PubMed Link: 24733887
Variant Present in the following documents:
  • Main text
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