Publication
mTOR-Activating Mutations in RRAGD are Causative for Kidney Tubulopathy and Cardiomyopathy
Karl-Peter Schlingmann, François Jouret, Kuang Shen, Anukrati Nigam, Francisco Arjona, Claudia Dafinger, Pascal Houillier, Deborah Jones, Felix Kleinerüschkamp, Jun Oh, Nathalie Godefroid, Mehmet Eltan, Tülay Güran, Stéphane Burtey, Marie-Christine Parotte, Jens König, Alina Braun, Caro Bos, Maria Ibars Serra, Holger Rehmann, Fried Zwartkruis, Kirsten Renkema, Karin Klingel, Eric Schulze-Bahr, Bernhard Schermer, Carsten Bergmann, Janine Altmüller, Holger Thiele, Bodo Beck, Karin Dahan, David Sabatini, Max Liebau, Rosa Vargas-Poussou, Nine Knoers, Martin Konrad, Jeroen de Baaij
Journal of the American Society of Nephrology, October 2021, American Society of Nephrology
DOI: 10.1681/asn.2021030333