@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP946368.RA4gKFFddBIOTL0TdpqV3fd7GV9HBA673gIgDL_7lmfPU> .
@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 dcterms: <http://purl.org/dc/terms/> .
@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:NP946368.RA4gKFFddBIOTL0TdpqV3fd7GV9HBA673gIgDL_7lmfPU130_head {
  this: np:hasAssertion dgn-np:NP946368.RA4gKFFddBIOTL0TdpqV3fd7GV9HBA673gIgDL_7lmfPU130_assertion;
    np:hasProvenance dgn-np:NP946368.RA4gKFFddBIOTL0TdpqV3fd7GV9HBA673gIgDL_7lmfPU130_provenance;
    np:hasPublicationInfo dgn-np:NP946368.RA4gKFFddBIOTL0TdpqV3fd7GV9HBA673gIgDL_7lmfPU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP946368.RA4gKFFddBIOTL0TdpqV3fd7GV9HBA673gIgDL_7lmfPU130_assertion a np:Assertion .
  
  dgn-np:NP946368.RA4gKFFddBIOTL0TdpqV3fd7GV9HBA673gIgDL_7lmfPU130_provenance a np:Provenance .
  
  dgn-np:NP946368.RA4gKFFddBIOTL0TdpqV3fd7GV9HBA673gIgDL_7lmfPU130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP946368.RA4gKFFddBIOTL0TdpqV3fd7GV9HBA673gIgDL_7lmfPU130_assertion {
  miriam-gene:79823 a ncit:C16612 .
  
  lld:C0268646 a ncit:C7057 .
  
  dgn-gda:DGNa1626339a7d5bf216402b6609e259d71 sio:SIO_000628 miriam-gene:79823, lld:C0268646;
    a sio:SIO_001121 .
}

dgn-np:NP946368.RA4gKFFddBIOTL0TdpqV3fd7GV9HBA673gIgDL_7lmfPU130_provenance {
  dgn-np:NP946368.RA4gKFFddBIOTL0TdpqV3fd7GV9HBA673gIgDL_7lmfPU130_assertion dcterms:description
      "[Since loss-of-function mutations in SLC3A1 are known to cause isolated cystinuria type I, and since the expression of the flanking genes, C2orf34 and PPM1B, was normal, the extended phenotype can be attributed to the deletion of PREPL.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_literature;
    sio:SIO_000772 miriam-pubmed:16385448;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^xsd:date .
  
  dgn-void:source_evidence_literature a eco:ECO_0000212;
    rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en;
    rdfs:label "DisGeNET evidence - LITERATURE"@en .
}

dgn-np:NP946368.RA4gKFFddBIOTL0TdpqV3fd7GV9HBA673gIgDL_7lmfPU130_publicationInfo {
  this: dcterms:created "2015-08-25T14:47:18+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}