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Truncating mutations in SHANK3 associated with global developmental delay interfere with nuclear β-catenin signaling
Authors:Fatemeh Hassani Nia  Daniel Woike  Katja Kloth  Fanny Kortüm  Hans-Jürgen Kreienkamp
Institution:Institute for Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Abstract:
Keywords:autism  nuclear localization  postsynaptic density  scaffold protein  truncating mutation  Wnt signaling
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