@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP1214727.RAvgsmlMvgSbaj0BpSfIHl2JsHHdOM6DyVL3-ClrJ3iig130_head { this: np:hasAssertion dgn-np:NP1214727.RAvgsmlMvgSbaj0BpSfIHl2JsHHdOM6DyVL3-ClrJ3iig130_assertion; np:hasProvenance dgn-np:NP1214727.RAvgsmlMvgSbaj0BpSfIHl2JsHHdOM6DyVL3-ClrJ3iig130_provenance; np:hasPublicationInfo dgn-np:NP1214727.RAvgsmlMvgSbaj0BpSfIHl2JsHHdOM6DyVL3-ClrJ3iig130_publicationInfo; a np:Nanopublication . dgn-np:NP1214727.RAvgsmlMvgSbaj0BpSfIHl2JsHHdOM6DyVL3-ClrJ3iig130_assertion a np:Assertion . dgn-np:NP1214727.RAvgsmlMvgSbaj0BpSfIHl2JsHHdOM6DyVL3-ClrJ3iig130_provenance a np:Provenance . dgn-np:NP1214727.RAvgsmlMvgSbaj0BpSfIHl2JsHHdOM6DyVL3-ClrJ3iig130_publicationInfo a np:PublicationInfo . } dgn-np:NP1214727.RAvgsmlMvgSbaj0BpSfIHl2JsHHdOM6DyVL3-ClrJ3iig130_assertion { miriam-gene:1769 a ncit:C16612 . lld:C3714756 a ncit:C7057 . dgn-gda:DGN04f10366b059ccc19e208074ee889c7d sio:SIO_000628 miriam-gene:1769, lld:C3714756; a sio:SIO_001121 . } dgn-np:NP1214727.RAvgsmlMvgSbaj0BpSfIHl2JsHHdOM6DyVL3-ClrJ3iig130_provenance { dgn-np:NP1214727.RAvgsmlMvgSbaj0BpSfIHl2JsHHdOM6DyVL3-ClrJ3iig130_assertion dcterms:description "[Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomalies syndrome caused by non-truncating mutations in the ATPase region of SMARCA2, which codes for one of the two alternative catalytic subunits of the BAF chromatin remodeling complex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:25169058; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP1214727.RAvgsmlMvgSbaj0BpSfIHl2JsHHdOM6DyVL3-ClrJ3iig130_publicationInfo { this: dcterms:created "2016-05-13T12:50:56+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }