@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP924243.RAF298innEI2T4UVSz6caAfFYzC3WLF1KTWajj0XVYitU> .
@prefix sub: <http://rdf.disgenet.org/resource/nanopub/NP924243.RAF298innEI2T4UVSz6caAfFYzC3WLF1KTWajj0XVYitU#> .
@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:DGN7452c5fc1c4aec4ee3e4b6473f057b87 sio:SIO_000628 miriam-gene:6323 , lld:C0751122 ;
		a sio:SIO_001122 .
}

sub:provenance {
	sub:assertion dcterms:description "[We screened for mutations of SCN1A, SCN2A and GABRG2 (the gene encoding gamma2 subunit of the GABA(A) receptor) in 59 patients with Dravet syndrome and found 29 SCN1A mutations and three missense SCN2A mutations.]. 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:19783390 ;
		prov:wasDerivedFrom dgn-void:UNIPROT ;
		prov:wasGeneratedBy eco:ECO_0000218 .
	
	dgn-void:UNIPROT pav:importedOn "2017-01-25"^^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 .
}

sub:publicationInfo {
	this: dcterms:created "2017-10-17T13:16:04+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" .
}