Germline de novo mutations in ATP1A1 cause renal hypomagnesemia, refractory seizures, and intellectual disability

Karl Schlingmann, Sascha Bandulik, Cherry Mammen, Maja Tarailo-Graovac, Rikke Holm, Matthias Baumann, Jens König, Jessica Lee, Britt Drögemöller, Katrin Imminger, Bodo Beck, Janine Altmüller, Holger Thiele, Siegfried Waldegger, William Van’t Hoff, Robert Kleta, Richard Warth, Clara van Karnebeek, Bente Vilsen, Detlef Bockenhauer, Martin Konrad
January 2018
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Type
Journal article
Publication
American Journal of Human Genetics