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ZNF462 variants and microdeletions. (a) A diagram showing the ZNF462 coding exons and introns (NM_021224.4). Note all detected variants are in the third exon and therefore likely result in nonsense-mediated mRNA decay. Chromatograms are shown in Supplementary Figure 1. (b) 9q31.2 microdeletions detected in the probands from families 4 and 5. Array data are shown in Supplementary Figure 3.
