Genes affected by predicted-damaging DNMs identified herein and their implication in ID.
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All missense mutations were predicted damaging by SIFT and Polyphen-2. All in-frame deletions and insertions here were predicted damaging by PROVEAN (http://provean.jcvi.org/genome_submit.php).*Predicted to affect splicing by both Human Splicing Finder (http://www.umd.be/HSF/) and Mutation Taster (http://www.mutationtaster.org/).ψPredicted-damaging DNMs present in cases with no likely or possibly pathogenic DNMs.**Splicing defect verified by RT-PCR (Figure S1).Genes affected by predicted-damaging DNMs identified herein and their implication in ID.
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2015-12-02
