WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Human Mutation
Vodopiutz, Julia J; Seidl, Rainer R; Prayer, Daniela D; Khan, M Imran MI; Mayr, Johannes A JA; Streubel, Berthold B; Steiß, Jens-Oliver JO; Hahn, Andreas A; Csaicsich, Dagmar D; Castro, Christel C; Assoum, Mirna M; Müller, Thomas T; Wieczorek, Dagmar D; Mancini, Grazia M S GM; Sadowski, Carolin E CE; Lévy, Nicolas N; Mégarbané, André A; Godbole, Koumudi K; Schanze, Denny D; Hildebrandt, Friedhelm F; Delague, Valérie V; Janecke, Andreas R AR; Zenker, Martin M
Publication Date: 2015-11
Variant appearance in text: WDR73: 1039C>T; His347Tyr