@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:NP19658.RAhhMVSUK7U8-a61RN1zukeIUpULZTzSzb36HyrXRBzIY130_head { this: np:hasAssertion dgn-np:NP19658.RAhhMVSUK7U8-a61RN1zukeIUpULZTzSzb36HyrXRBzIY130_assertion; np:hasProvenance dgn-np:NP19658.RAhhMVSUK7U8-a61RN1zukeIUpULZTzSzb36HyrXRBzIY130_provenance; np:hasPublicationInfo dgn-np:NP19658.RAhhMVSUK7U8-a61RN1zukeIUpULZTzSzb36HyrXRBzIY130_publicationInfo; a np:Nanopublication . dgn-np:NP19658.RAhhMVSUK7U8-a61RN1zukeIUpULZTzSzb36HyrXRBzIY130_assertion a np:Assertion . dgn-np:NP19658.RAhhMVSUK7U8-a61RN1zukeIUpULZTzSzb36HyrXRBzIY130_provenance a np:Provenance . dgn-np:NP19658.RAhhMVSUK7U8-a61RN1zukeIUpULZTzSzb36HyrXRBzIY130_publicationInfo a np:PublicationInfo . } dgn-np:NP19658.RAhhMVSUK7U8-a61RN1zukeIUpULZTzSzb36HyrXRBzIY130_assertion { miriam-gene:23096 a ncit:C16612 . lld:C3714756 a ncit:C7057 . dgn-gda:DGNefd5d92a2ae1f11d45a2d960572018a8 sio:SIO_000628 miriam-gene:23096, lld:C3714756; a sio:SIO_001121 . } dgn-np:NP19658.RAhhMVSUK7U8-a61RN1zukeIUpULZTzSzb36HyrXRBzIY130_provenance { dgn-np:NP19658.RAhhMVSUK7U8-a61RN1zukeIUpULZTzSzb36HyrXRBzIY130_assertion dcterms:description "[Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:20473311; prov:wasDerivedFrom dgn-void:ctd_human-20150221; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:ctd_human-20150221 pav:importedOn "2015-02-21"^^xsd:date . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . } dgn-np:NP19658.RAhhMVSUK7U8-a61RN1zukeIUpULZTzSzb36HyrXRBzIY130_publicationInfo { this: dcterms:created "2015-08-25T14:37:51+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }