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Figure 2Figure 2
a The 49-gene connected component of the PPI network formed from 126 genes with severe de novo mutations among the 209 probands. b, Proband 13844 inherits three rare gene-disruptive CNVs and carries two de novo truncating mutations. c, GeneMANIA 21 view of three of the affected genes ( b ) (red labels) which encode proteins that are part of a beta-catenin linked network. This proband is macrocephalic, impaired cognitively, and has deficits in social behavior and language development ( Supplementary Discussion ).