The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome

Bernt Popp, Melanie Brugger, Sibylle Poschmann, Tobias Bartolomaeus, Maximilian Radtke, Julia Hentschel, Nataliya Di Donato, Andreas Rump, Janina Gburek-Augustat, Elisabeth Graf, Matias Wagner, Ina Sorge, Johannes R. Lemke, Thomas Meitinger, Rami Abou Jamra, Vincent Strehlow, Theresa Brunet

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Biochemistry, Genetics and Molecular Biology