@prefix dc: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP2499.RAFwCM66GRAutIzXrGymSL0lLgeaP6Kap_fV4vsO-y8zU> .
@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:NP2499.RAFwCM66GRAutIzXrGymSL0lLgeaP6Kap_fV4vsO-y8zU130_head {
  this: np:hasAssertion dgn-np:NP2499.RAFwCM66GRAutIzXrGymSL0lLgeaP6Kap_fV4vsO-y8zU130_assertion;
    np:hasProvenance dgn-np:NP2499.RAFwCM66GRAutIzXrGymSL0lLgeaP6Kap_fV4vsO-y8zU130_provenance;
    np:hasPublicationInfo dgn-np:NP2499.RAFwCM66GRAutIzXrGymSL0lLgeaP6Kap_fV4vsO-y8zU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP2499.RAFwCM66GRAutIzXrGymSL0lLgeaP6Kap_fV4vsO-y8zU130_assertion a np:Assertion .
  
  dgn-np:NP2499.RAFwCM66GRAutIzXrGymSL0lLgeaP6Kap_fV4vsO-y8zU130_provenance a np:Provenance .
  
  dgn-np:NP2499.RAFwCM66GRAutIzXrGymSL0lLgeaP6Kap_fV4vsO-y8zU130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP2499.RAFwCM66GRAutIzXrGymSL0lLgeaP6Kap_fV4vsO-y8zU130_assertion {
  miriam-gene:6223 a ncit:C16612 .
  
  lld:C2676137 a ncit:C7057 .
  
  dgn-gda:DGNf992044b509cd4cb08ecbb8f223bb30f sio:SIO_000628 miriam-gene:6223, lld:C2676137;
    a sio:SIO_001122 .
}

dgn-np:NP2499.RAFwCM66GRAutIzXrGymSL0lLgeaP6Kap_fV4vsO-y8zU130_provenance {
  dgn-np:NP2499.RAFwCM66GRAutIzXrGymSL0lLgeaP6Kap_fV4vsO-y8zU130_assertion dc:description
      "[To determine the prevalence of mutations in this gene in DBA and to begin to define the molecular basis for the observed variable clinical phenotype of this disorder, the genomic sequence of the 6 exons and the 5' untranslated region of the RPS19 gene was directly assessed in DBA index cases from 172 new families.]. 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:10590074;
    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:NP2499.RAFwCM66GRAutIzXrGymSL0lLgeaP6Kap_fV4vsO-y8zU130_publicationInfo {
  this: dc:created "2015-08-25T14:37:43+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" .
}