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Mutations and variations of SHANK3. The top half gives the location of the mutations and rare nonsynonymous variations found in the present study, whereas the bottom half shows those described elsewhere.12 De novo mutations are shown in bold. SH3 = Src homology-3 domain; PDZ = PDZ domain; H = homer–binding site; C = cortactin-binding site; SAM = sterile α motif.
