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Fig. 1 Mutations in SCGN are linked to ASD. a Schematic diagram of mutation sites in two ASD probands. b ASD0010 carries one heterozygous, missense mutation (R79W) in the SCGN gene. c Sanger sequencing traces of unaffected parents and affected ASD0010 proband. d ASD0014 carries a heterozygous mutation in SCGN immediately after exon 10, which likely affect gene splicing. 10.67 and 3.03 are predicted 5’ splice site score for WT and the mutation. The top panel is the 5’ splicing site motif. MES Maximum Entropy Score. e Sanger sequencing traces of unaffected parents and affected ASD0014 proband
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