| http://purl.uniprot.org/citations/27665729 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27665729 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27665729 | http://www.w3.org/2000/01/rdf-schema#comment | "We report a de novo SMARCA2 missense mutation discovered on exome sequencing in a patient with myoclonic astatic epilepsy, leading to reassessment and identification of Nicolaides-Baraitser syndrome. This de novo SMARCA2 missense mutation c.3721C>G, p.Gln1241Glu is the only reported mutation on exon 26 outside the ATPase domain of SMARCA2 to be associated with Nicolaides-Baraitser syndrome and adds to chromatin remodeling as a pathway for epileptogenesis. © 2016 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc."xsd:string |
| http://purl.uniprot.org/citations/27665729 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.a.37935"xsd:string |
| http://purl.uniprot.org/citations/27665729 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.a.37935"xsd:string |
| http://purl.uniprot.org/citations/27665729 | http://purl.uniprot.org/core/author | "Tang S."xsd:string |
| http://purl.uniprot.org/citations/27665729 | http://purl.uniprot.org/core/author | "Tang S."xsd:string |
| http://purl.uniprot.org/citations/27665729 | http://purl.uniprot.org/core/author | "Simpson M.A."xsd:string |
| http://purl.uniprot.org/citations/27665729 | http://purl.uniprot.org/core/author | "Simpson M.A."xsd:string |
| http://purl.uniprot.org/citations/27665729 | http://purl.uniprot.org/core/author | "Hughes E."xsd:string |
| http://purl.uniprot.org/citations/27665729 | http://purl.uniprot.org/core/author | "Hughes E."xsd:string |
| http://purl.uniprot.org/citations/27665729 | http://purl.uniprot.org/core/author | "Lascelles K."xsd:string |
| http://purl.uniprot.org/citations/27665729 | http://purl.uniprot.org/core/author | "Lascelles K."xsd:string |
| http://purl.uniprot.org/citations/27665729 | http://purl.uniprot.org/core/author | "Pal D.K."xsd:string |
| http://purl.uniprot.org/citations/27665729 | http://purl.uniprot.org/core/author | "Pal D.K."xsd:string |
| http://purl.uniprot.org/citations/27665729 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
| http://purl.uniprot.org/citations/27665729 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
| http://purl.uniprot.org/citations/27665729 | http://purl.uniprot.org/core/name | "Am. J. Med. Genet. A"xsd:string |
| http://purl.uniprot.org/citations/27665729 | http://purl.uniprot.org/core/name | "Am. J. Med. Genet. A"xsd:string |
| http://purl.uniprot.org/citations/27665729 | http://purl.uniprot.org/core/pages | "195-199"xsd:string |
| http://purl.uniprot.org/citations/27665729 | http://purl.uniprot.org/core/pages | "195-199"xsd:string |
| http://purl.uniprot.org/citations/27665729 | http://purl.uniprot.org/core/title | "New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy."xsd:string |
| http://purl.uniprot.org/citations/27665729 | http://purl.uniprot.org/core/title | "New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy."xsd:string |
| http://purl.uniprot.org/citations/27665729 | http://purl.uniprot.org/core/volume | "173"xsd:string |
| http://purl.uniprot.org/citations/27665729 | http://purl.uniprot.org/core/volume | "173"xsd:string |