@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP256863.RALfD038FHwK997pXzEH1zM2mOFyDYs62_kXM82F8-_RI> .
@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:NP256863.RALfD038FHwK997pXzEH1zM2mOFyDYs62_kXM82F8-_RI130_head {
  this: np:hasAssertion dgn-np:NP256863.RALfD038FHwK997pXzEH1zM2mOFyDYs62_kXM82F8-_RI130_assertion;
    np:hasProvenance dgn-np:NP256863.RALfD038FHwK997pXzEH1zM2mOFyDYs62_kXM82F8-_RI130_provenance;
    np:hasPublicationInfo dgn-np:NP256863.RALfD038FHwK997pXzEH1zM2mOFyDYs62_kXM82F8-_RI130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP256863.RALfD038FHwK997pXzEH1zM2mOFyDYs62_kXM82F8-_RI130_assertion a np:Assertion .
  
  dgn-np:NP256863.RALfD038FHwK997pXzEH1zM2mOFyDYs62_kXM82F8-_RI130_provenance a np:Provenance .
  
  dgn-np:NP256863.RALfD038FHwK997pXzEH1zM2mOFyDYs62_kXM82F8-_RI130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP256863.RALfD038FHwK997pXzEH1zM2mOFyDYs62_kXM82F8-_RI130_assertion {
  miriam-gene:525 a ncit:C16612 .
  
  lld:C0018784 a ncit:C7057 .
  
  dgn-gda:DGN30316306c0a96e0b5b8263cc8d804d79 sio:SIO_000628 miriam-gene:525, lld:C0018784;
    a sio:SIO_001121 .
}

dgn-np:NP256863.RALfD038FHwK997pXzEH1zM2mOFyDYs62_kXM82F8-_RI130_provenance {
  dgn-np:NP256863.RALfD038FHwK997pXzEH1zM2mOFyDYs62_kXM82F8-_RI130_assertion dcterms:description
      "[Although a single case report, this is the second report documenting ATP6B1 mutations in recessive distal RTA with sensorineural hearing loss after the original report by Karet et al and confirms the novelty of these mutations.]. 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:12500243;
    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:NP256863.RALfD038FHwK997pXzEH1zM2mOFyDYs62_kXM82F8-_RI130_publicationInfo {
  this: dcterms:created "2015-08-25T14:40:06+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" .
}