@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP990628.RAIkx12WXwVmin8vKfZ5nma5M9vdk9rNpIaXxnai6myoI> .
@prefix sub: <http://rdf.disgenet.org/resource/nanopub/NP990628.RAIkx12WXwVmin8vKfZ5nma5M9vdk9rNpIaXxnai6myoI#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix sio: <http://semanticscience.org/resource/> .
@prefix lld: <http://linkedlifedata.com/resource/umls/id/> .
@prefix miriam-gene: <http://identifiers.org/ncbigene/> .
@prefix miriam-pubmed: <http://identifiers.org/pubmed/> .
@prefix eco: <http://purl.obolibrary.org/obo/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v5.0.0/void/> .

sub:head {
	this: np:hasAssertion sub:assertion ;
		np:hasProvenance sub:provenance ;
		np:hasPublicationInfo sub:publicationInfo ;
		a np:Nanopublication .
}

sub:assertion {
	dgn-gda:DGN9c900e604ae1c613f73fd40ede4bee90 sio:SIO_000628 miriam-gene:6792 , lld:C0035372 ;
		a sio:SIO_001122 .
}

sub:provenance {
	sub:assertion dcterms:description "[Novel pathogenic CDKL5 mutations were identified in three girls, two of whom had initially been diagnosed with the early onset seizure variant of RTT and the other with early onset seizures and some features of RTT.]. 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:16015284 ;
		prov:wasDerivedFrom dgn-void:BEFREE ;
		prov:wasGeneratedBy eco:ECO_0000203 .
	
	dgn-void:BEFREE pav:importedOn "2017-02-19"^^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 .
}

sub:publicationInfo {
	this: dcterms:created "2017-10-17T13:16:30+02:00"^^xsd:dateTime ;
		dcterms:rights <http://opendatacommons.org/licenses/odbl/1.0/> ;
		dcterms:rightsHolder dgn-void:IBIGroup ;
		dcterms:subject sio:SIO_000983 ;
		prv:usedData dgn-void:disgenetv3.0rdf ;
		pav:authoredBy <http://orcid.org/0000-0001-5999-6269> , <http://orcid.org/0000-0002-7534-7661> , <http://orcid.org/0000-0002-9383-528X> , <http://orcid.org/0000-0003-0169-8159> , <http://orcid.org/0000-0003-1244-7654> ;
		pav:createdBy <http://orcid.org/0000-0003-0169-8159> ;
		pav:version "v5.0.0.0" .
	
	dgn-void:disgenetv3.0rdf pav:version "v5.0.0" .
}