@prefix dc: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I> .
@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:NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I130_head {
  this: np:hasAssertion dgn-np:NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I130_assertion;
    np:hasProvenance dgn-np:NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I130_provenance;
    np:hasPublicationInfo dgn-np:NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I130_assertion a np:Assertion .
  
  dgn-np:NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I130_provenance a np:Provenance .
  
  dgn-np:NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I130_assertion {
  miriam-gene:6223 a ncit:C16612 .
  
  lld:C2676137 a ncit:C7057 .
  
  dgn-gda:DGN42eb9b669d8266ed92f57c446d6947cd sio:SIO_000628 miriam-gene:6223, lld:C2676137;
    a sio:SIO_001122 .
}

dgn-np:NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I130_provenance {
  dgn-np:NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I130_assertion dc:description
      "[Our data support the notion that, in addition to rare DBA patients with the deletion of one allele, the disease in certain other RPS19 mutant patients is because of RPS19 protein haplo-insufficiency.]. 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:15384984;
    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:NP2496.RAbTx6CpTlzBIY4--P6-i5q8JDACtJ72E5SNDjQMEit2I130_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" .
}