@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP231653.RAuMjQvkm4_xIYtvfXT4Y2fbnbT5tN2B8ghA8roxaPQ8Q> .
@prefix sub: <http://rdf.disgenet.org/resource/nanopub/NP231653.RAuMjQvkm4_xIYtvfXT4Y2fbnbT5tN2B8ghA8roxaPQ8Q#> .
@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:DGN79d94e50fc64274a81a6dc3226f59f35 sio:SIO_000628 miriam-gene:1311 , lld:C0410538 ;
		a sio:SIO_001122 .
}

sub:provenance {
	sub:assertion dcterms:description "[The COMP gene mutation (C348R), while not previously published, is typical of those in PSACH patients, whereas the COL2A1 mutation (T1370M) is somewhat atypical, as it predicts an amino acid change within the carboxyl-terminal region of the protein.]. 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:11746045 ;
		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 "2017-10-17T13:11:40+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" .
}