http://purl.uniprot.org/citations/27479843 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/27479843 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/27479843 | http://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/27479843 | http://purl.org/dc/terms/identifier | "doi:10.1038/nn.4352"xsd:string |
http://purl.uniprot.org/citations/27479843 | http://purl.org/dc/terms/identifier | "doi:10.1038/nn.4352"xsd:string |
http://purl.uniprot.org/citations/27479843 | http://purl.uniprot.org/core/author | "Brunner H.G."xsd:string |
http://purl.uniprot.org/citations/27479843 | http://purl.uniprot.org/core/author | "Brunner H.G."xsd:string |
http://purl.uniprot.org/citations/27479843 | http://purl.uniprot.org/core/author | "Gilissen C."xsd:string |
http://purl.uniprot.org/citations/27479843 | http://purl.uniprot.org/core/author | "Gilissen C."xsd:string |
http://purl.uniprot.org/citations/27479843 | http://purl.uniprot.org/core/author | "Kleefstra T."xsd:string |
http://purl.uniprot.org/citations/27479843 | http://purl.uniprot.org/core/author | "Kleefstra T."xsd:string |
http://purl.uniprot.org/citations/27479843 | http://purl.uniprot.org/core/author | "Reijnders M.R."xsd:string |
http://purl.uniprot.org/citations/27479843 | http://purl.uniprot.org/core/author | "Reijnders M.R."xsd:string |
http://purl.uniprot.org/citations/27479843 | http://purl.uniprot.org/core/author | "Veltman J.A."xsd:string |
http://purl.uniprot.org/citations/27479843 | http://purl.uniprot.org/core/author | "Veltman J.A."xsd:string |
http://purl.uniprot.org/citations/27479843 | http://purl.uniprot.org/core/author | "Vissers L.E."xsd:string |
http://purl.uniprot.org/citations/27479843 | http://purl.uniprot.org/core/author | "Vissers L.E."xsd:string |
http://purl.uniprot.org/citations/27479843 | http://purl.uniprot.org/core/author | "Willemsen M.H."xsd:string |
http://purl.uniprot.org/citations/27479843 | http://purl.uniprot.org/core/author | "Willemsen M.H."xsd:string |
http://purl.uniprot.org/citations/27479843 | http://purl.uniprot.org/core/author | "Yntema H.G."xsd:string |
http://purl.uniprot.org/citations/27479843 | http://purl.uniprot.org/core/author | "Yntema H.G."xsd:string |
http://purl.uniprot.org/citations/27479843 | http://purl.uniprot.org/core/author | "de Vries B.B."xsd:string |
http://purl.uniprot.org/citations/27479843 | http://purl.uniprot.org/core/author | "de Vries B.B."xsd:string |
http://purl.uniprot.org/citations/27479843 | http://purl.uniprot.org/core/author | "de Vries P."xsd:string |
http://purl.uniprot.org/citations/27479843 | http://purl.uniprot.org/core/author | "de Vries P."xsd:string |