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  • Title: Another piece of the autism puzzle.
    Author: State MW.
    Journal: Nat Genet; 2010 Jun; 42(6):478-9. PubMed ID: 20502490.
    Abstract:
    A new study has identified rare de novo mutations in SHANK2 in individuals with autism and/or mental retardation. SHANK2 encodes a scaffolding protein present in excitatory synapses. This finding sheds some light on the pathophysiology of social and cognitive disability.
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