| http://purl.uniprot.org/citations/22544367 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22544367 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22544367 | http://www.w3.org/2000/01/rdf-schema#comment | "The chromosome 17q21.31 deletion syndrome is a genomic disorder characterized by highly distinctive facial features, moderate-to-severe intellectual disability, hypotonia and friendly behavior. Here, we show that de novo loss-of-function mutations in KANSL1 (also called KIAA1267) cause a full del(17q21.31) phenotype in two unrelated individuals that lack deletion at 17q21.31. These findings indicate that 17q21.31 deletion syndrome is a monogenic disorder caused by haploinsufficiency of KANSL1."xsd:string |
| http://purl.uniprot.org/citations/22544367 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.2257"xsd:string |
| http://purl.uniprot.org/citations/22544367 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.2257"xsd:string |
| http://purl.uniprot.org/citations/22544367 | http://purl.uniprot.org/core/author | "Mercuri E."xsd:string |
| http://purl.uniprot.org/citations/22544367 | http://purl.uniprot.org/core/author | "Mercuri E."xsd:string |
| http://purl.uniprot.org/citations/22544367 | http://purl.uniprot.org/core/author | "Marangi G."xsd:string |
| http://purl.uniprot.org/citations/22544367 | http://purl.uniprot.org/core/author | "Marangi G."xsd:string |
| http://purl.uniprot.org/citations/22544367 | http://purl.uniprot.org/core/author | "Zollino M."xsd:string |
| http://purl.uniprot.org/citations/22544367 | http://purl.uniprot.org/core/author | "Zollino M."xsd:string |
| http://purl.uniprot.org/citations/22544367 | http://purl.uniprot.org/core/author | "Murdolo M."xsd:string |
| http://purl.uniprot.org/citations/22544367 | http://purl.uniprot.org/core/author | "Murdolo M."xsd:string |
| http://purl.uniprot.org/citations/22544367 | http://purl.uniprot.org/core/author | "Neri G."xsd:string |
| http://purl.uniprot.org/citations/22544367 | http://purl.uniprot.org/core/author | "Neri G."xsd:string |
| http://purl.uniprot.org/citations/22544367 | http://purl.uniprot.org/core/author | "Chiurazzi P."xsd:string |
| http://purl.uniprot.org/citations/22544367 | http://purl.uniprot.org/core/author | "Chiurazzi P."xsd:string |
| http://purl.uniprot.org/citations/22544367 | http://purl.uniprot.org/core/author | "Battaglia D."xsd:string |
| http://purl.uniprot.org/citations/22544367 | http://purl.uniprot.org/core/author | "Battaglia D."xsd:string |
| http://purl.uniprot.org/citations/22544367 | http://purl.uniprot.org/core/author | "Lattante S."xsd:string |
| http://purl.uniprot.org/citations/22544367 | http://purl.uniprot.org/core/author | "Lattante S."xsd:string |
| http://purl.uniprot.org/citations/22544367 | http://purl.uniprot.org/core/author | "Orteschi D."xsd:string |
| http://purl.uniprot.org/citations/22544367 | http://purl.uniprot.org/core/author | "Orteschi D."xsd:string |
| http://purl.uniprot.org/citations/22544367 | http://purl.uniprot.org/core/author | "Stefanini C."xsd:string |
| http://purl.uniprot.org/citations/22544367 | http://purl.uniprot.org/core/author | "Stefanini C."xsd:string |