@prefix dc: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1080.RA4eDGJUxpgpHayazZHQy09plE1plzvcT5Muk_YGJu730> .
@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 ncit: <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#> .
@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 np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v3.0.0/void/> .
dgn-np:NP1080.RA4eDGJUxpgpHayazZHQy09plE1plzvcT5Muk_YGJu730130_head {
   this: np:hasAssertion dgn-np:NP1080.RA4eDGJUxpgpHayazZHQy09plE1plzvcT5Muk_YGJu730130_assertion ;
    np:hasProvenance dgn-np:NP1080.RA4eDGJUxpgpHayazZHQy09plE1plzvcT5Muk_YGJu730130_provenance ;
    np:hasPublicationInfo dgn-np:NP1080.RA4eDGJUxpgpHayazZHQy09plE1plzvcT5Muk_YGJu730130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP1080.RA4eDGJUxpgpHayazZHQy09plE1plzvcT5Muk_YGJu730130_assertion a np:Assertion .
  dgn-np:NP1080.RA4eDGJUxpgpHayazZHQy09plE1plzvcT5Muk_YGJu730130_provenance a np:Provenance .
  dgn-np:NP1080.RA4eDGJUxpgpHayazZHQy09plE1plzvcT5Muk_YGJu730130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP1080.RA4eDGJUxpgpHayazZHQy09plE1plzvcT5Muk_YGJu730130_assertion {
   miriam-gene:4353 a ncit:C16612 .
  lld:C0398595 a ncit:C7057 .
  dgn-gda:DGNc35960fd2316daedfd09208627a4f172 sio:SIO_000628 miriam-gene:4353 , lld:C0398595 ;
    a sio:SIO_001122 .
}
dgn-np:NP1080.RA4eDGJUxpgpHayazZHQy09plE1plzvcT5Muk_YGJu730130_provenance {
   dgn-np:NP1080.RA4eDGJUxpgpHayazZHQy09plE1plzvcT5Muk_YGJu730130_assertion dc: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-20150221 ;
    prov:wasGeneratedBy eco:ECO_0000218 .
  dgn-void:source_evidence_curated a eco:ECO_0000205 ;
    rdfs:comment "Gene-disease associations manually curated."@en ;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  dgn-void:uniprot-20150221 pav:importedOn "2015-02-21"^^xsd:date .
}
dgn-np:NP1080.RA4eDGJUxpgpHayazZHQy09plE1plzvcT5Muk_YGJu730130_publicationInfo {
   this: dc:created "2015-08-25T14:37:42+02:00"^^xsd:dateTime ;
    dc:rights <http://opendatacommons.org/licenses/odbl/1.0/> ;
    dc:rightsHolder dgn-void:IBIGroup ;
    dc:subject sio:SIO_000983 ;
    prv:usedData dgn-void:disgenetv3.0rdf ;
    pav:authoredBy orcid:0000-0001-5999-6269 , orcid:0000-0002-7534-7661 , orcid:0000-0002-9383-528X , orcid:0000-0003-0169-8159 , orcid:0000-0003-1244-7654 ;
    pav:createdBy orcid:0000-0003-0169-8159 ;
    pav:version "v3.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}