| http://purl.uniprot.org/citations/22426308 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22426308 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22426308 | http://www.w3.org/2000/01/rdf-schema#comment | "By exome sequencing, we found de novo SMARCB1 mutations in two of five individuals with typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly syndrome. As SMARCB1 encodes a subunit of the SWItch/Sucrose NonFermenting (SWI/SNF) complex, we screened 15 other genes encoding subunits of this complex in 23 individuals with CSS. Twenty affected individuals (87%) each had a germline mutation in one of six SWI/SNF subunit genes, including SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A and ARID1B."xsd:string |
| http://purl.uniprot.org/citations/22426308 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.2219"xsd:string |
| http://purl.uniprot.org/citations/22426308 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.2219"xsd:string |
| http://purl.uniprot.org/citations/22426308 | http://purl.uniprot.org/core/author | "Doi H."xsd:string |
| http://purl.uniprot.org/citations/22426308 | http://purl.uniprot.org/core/author | "Doi H."xsd:string |
| http://purl.uniprot.org/citations/22426308 | http://purl.uniprot.org/core/author | "Imai Y."xsd:string |
| http://purl.uniprot.org/citations/22426308 | http://purl.uniprot.org/core/author | "Imai Y."xsd:string |
| http://purl.uniprot.org/citations/22426308 | http://purl.uniprot.org/core/author | "Kato M."xsd:string |
| http://purl.uniprot.org/citations/22426308 | http://purl.uniprot.org/core/author | "Kato M."xsd:string |
| http://purl.uniprot.org/citations/22426308 | http://purl.uniprot.org/core/author | "Okada I."xsd:string |
| http://purl.uniprot.org/citations/22426308 | http://purl.uniprot.org/core/author | "Okada I."xsd:string |
| http://purl.uniprot.org/citations/22426308 | http://purl.uniprot.org/core/author | "Nagai T."xsd:string |
| http://purl.uniprot.org/citations/22426308 | http://purl.uniprot.org/core/author | "Nagai T."xsd:string |
| http://purl.uniprot.org/citations/22426308 | http://purl.uniprot.org/core/author | "Okamoto N."xsd:string |
| http://purl.uniprot.org/citations/22426308 | http://purl.uniprot.org/core/author | "Okamoto N."xsd:string |
| http://purl.uniprot.org/citations/22426308 | http://purl.uniprot.org/core/author | "Matsumoto N."xsd:string |
| http://purl.uniprot.org/citations/22426308 | http://purl.uniprot.org/core/author | "Matsumoto N."xsd:string |
| http://purl.uniprot.org/citations/22426308 | http://purl.uniprot.org/core/author | "Ogata K."xsd:string |
| http://purl.uniprot.org/citations/22426308 | http://purl.uniprot.org/core/author | "Ogata K."xsd:string |
| http://purl.uniprot.org/citations/22426308 | http://purl.uniprot.org/core/author | "Ohta T."xsd:string |
| http://purl.uniprot.org/citations/22426308 | http://purl.uniprot.org/core/author | "Ohta T."xsd:string |
| http://purl.uniprot.org/citations/22426308 | http://purl.uniprot.org/core/author | "Yamagata T."xsd:string |
| http://purl.uniprot.org/citations/22426308 | http://purl.uniprot.org/core/author | "Yamagata T."xsd:string |