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http://purl.uniprot.org/citations/27479843http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/27479843http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/27479843http://www.w3.org/2000/01/rdf-schema#comment"To identify candidate genes for intellectual disability, we performed a meta-analysis on 2,637 de novo mutations, identified from the exomes of 2,104 patient-parent trios. Statistical analyses identified 10 new candidate ID genes: DLG4, PPM1D, RAC1, SMAD6, SON, SOX5, SYNCRIP, TCF20, TLK2 and TRIP12. In addition, we show that these genes are intolerant to nonsynonymous variation and that mutations in these genes are associated with specific clinical ID phenotypes."xsd:string
http://purl.uniprot.org/citations/27479843http://purl.org/dc/terms/identifier"doi:10.1038/nn.4352"xsd:string
http://purl.uniprot.org/citations/27479843http://purl.org/dc/terms/identifier"doi:10.1038/nn.4352"xsd:string
http://purl.uniprot.org/citations/27479843http://purl.uniprot.org/core/author"Brunner H.G."xsd:string
http://purl.uniprot.org/citations/27479843http://purl.uniprot.org/core/author"Brunner H.G."xsd:string
http://purl.uniprot.org/citations/27479843http://purl.uniprot.org/core/author"Gilissen C."xsd:string
http://purl.uniprot.org/citations/27479843http://purl.uniprot.org/core/author"Gilissen C."xsd:string
http://purl.uniprot.org/citations/27479843http://purl.uniprot.org/core/author"Kleefstra T."xsd:string
http://purl.uniprot.org/citations/27479843http://purl.uniprot.org/core/author"Kleefstra T."xsd:string
http://purl.uniprot.org/citations/27479843http://purl.uniprot.org/core/author"Reijnders M.R."xsd:string
http://purl.uniprot.org/citations/27479843http://purl.uniprot.org/core/author"Reijnders M.R."xsd:string
http://purl.uniprot.org/citations/27479843http://purl.uniprot.org/core/author"Veltman J.A."xsd:string
http://purl.uniprot.org/citations/27479843http://purl.uniprot.org/core/author"Veltman J.A."xsd:string
http://purl.uniprot.org/citations/27479843http://purl.uniprot.org/core/author"Vissers L.E."xsd:string
http://purl.uniprot.org/citations/27479843http://purl.uniprot.org/core/author"Vissers L.E."xsd:string
http://purl.uniprot.org/citations/27479843http://purl.uniprot.org/core/author"Willemsen M.H."xsd:string
http://purl.uniprot.org/citations/27479843http://purl.uniprot.org/core/author"Willemsen M.H."xsd:string
http://purl.uniprot.org/citations/27479843http://purl.uniprot.org/core/author"Yntema H.G."xsd:string
http://purl.uniprot.org/citations/27479843http://purl.uniprot.org/core/author"Yntema H.G."xsd:string
http://purl.uniprot.org/citations/27479843http://purl.uniprot.org/core/author"de Vries B.B."xsd:string
http://purl.uniprot.org/citations/27479843http://purl.uniprot.org/core/author"de Vries B.B."xsd:string
http://purl.uniprot.org/citations/27479843http://purl.uniprot.org/core/author"de Vries P."xsd:string
http://purl.uniprot.org/citations/27479843http://purl.uniprot.org/core/author"de Vries P."xsd:string