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Keywords: SHANK3
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Journal Articles
Mol Syndromol (2012) 2 (3-5): 186–201.
Published Online: 22 November 2011
... deletions, ring chromosomes, and unbalanced translocations. Almost all of these deletions include the gene SHANK3 which encodes a scaffold protein in the postsynaptic densities of excitatory synapses, connecting membrane-bound receptors to the actin cytoskeleton. Two mouse knockout models and cell culture...