@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP893942.RAyU5rQrPb44hzUwp09gO949ouIEO5ykjhs0dtxQ7O1ww> .
@prefix sub: <http://rdf.disgenet.org/resource/nanopub/NP893942.RAyU5rQrPb44hzUwp09gO949ouIEO5ykjhs0dtxQ7O1ww#> .
@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:DGNe42bd4deada57658ca27122c1e4164b4 sio:SIO_000628 miriam-gene:5894 , lld:C0007194 ;
		a sio:SIO_001121 .
}

sub:provenance {
	sub:assertion dcterms:description "[We have identified five different mutations in RAF1 in ten individuals with Noonan syndrome; those with any of four mutations causing changes in the CR2 domain of RAF1 had hypertrophic cardiomyopathy (HCM), whereas affected individuals with mutations leading to changes in the CR3 domain did not.]. 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:17603482 ;
		prov:wasDerivedFrom dgn-void:CTD_human ;
		prov:wasGeneratedBy eco:ECO_0000218 .
	
	dgn-void:CTD_human 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 "2017-10-17T13:15:53+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" .
}