@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP706884.RA5JRukpAuw6qF5iw90ORErBnK6VCpSq9rOcsvntenyEY> .
@prefix sub: <http://rdf.disgenet.org/resource/nanopub/NP706884.RA5JRukpAuw6qF5iw90ORErBnK6VCpSq9rOcsvntenyEY#> .
@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:DGNc35960fd2316daedfd09208627a4f172 sio:SIO_000628 miriam-gene:4353 , lld:C0398595 ;
    a sio:SIO_001122 .
}
sub:provenance {
   sub:assertion dcterms:description "[We identified a novel missense mutation in the MPO gene at codon 173 whereby tyrosine is replaced with cysteine (Y173C) that is associated with MPO deficiency and assessed its impact on MPO processing and targeting in transfectants expressing normal or mutant proteins.]. 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:9637725 ;
    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 "2017-10-17T13:14:41+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" .
}