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Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
Pawaree Saisawat, Stefan Kohl, Alina C Hilger, Daw-Yang Hwang, Heon Yung Gee, Gabriel C Dworschak, Velibor Tasic, Tracie Pennimpede, Sivakumar Natarajan, Ethan Sperry, Danilo S Matassa, Nataša Stajic, Radovan Bogdanovic, Ivo de Blaauw, Carlo L M Marcelis, Charlotte H W Wijers, Enrika Bartels, Eberhard Schmiedeke, Dominik Schmidt, Stefanie Märzheuser, Sabine Grasshoff-Derr, Stefan Holland-Cunz, Michael Ludwig, Markus M Nöthen, Markus Draaken, Erwin Brosens, Hugo Heij, Dick Tibboel, Bernhard G Herrmann, Benjamin D Solomon, Annelies de Klein, Iris A.L.M. van Rooij, Franca Esposito, Heiko M Reutter and Friedhelm Hildebrandt
Kidney International , (23 October 2013) | doi:10.1038/ki.2013.417

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