@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP225234.RAYARBtNr6vntuFI6bp4aFBFCut1xoASi8S0LEW2XNaO4> .
@prefix sub: <http://rdf.disgenet.org/resource/nanopub/NP225234.RAYARBtNr6vntuFI6bp4aFBFCut1xoASi8S0LEW2XNaO4#> .
@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:DGNad4e55e05eb11e24a1ed1edef8d67539 sio:SIO_000628 miriam-gene:1277 , lld:C0029464 ;
		a sio:SIO_001122 .
}

sub:provenance {
	sub:assertion dcterms:description "[We identified a mutation in the carboxyl-terminal propeptide coding region of one COL1A1 allele in an infant who died with an OI phenotype that differed from the usual lethal form and had regions of increased bone density.]. 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:11826020 ;
		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 "2017-10-17T13:11:38+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" .
}