@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok> .
@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/v4.0.0/void/> .

dgn-np:NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok130_head {
  this: np:hasAssertion dgn-np:NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok130_assertion;
    np:hasProvenance dgn-np:NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok130_provenance;
    np:hasPublicationInfo dgn-np:NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok130_assertion a np:Assertion .
  
  dgn-np:NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok130_provenance a np:Provenance .
  
  dgn-np:NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok130_assertion {
  miriam-gene:7299 a ncit:C16612 .
  
  lld:C0001916 a ncit:C7057 .
  
  dgn-gda:DGNb256a8a187e3665f2f5ca8ca5ddd847d sio:SIO_000628 miriam-gene:7299, lld:C0001916;
    a sio:SIO_001121 .
}

dgn-np:NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok130_provenance {
  dgn-np:NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok130_assertion dcterms:description
      "[Aside from the albinism in the proband, his phenotype and that of his normally pigmented father is otherwise normal, suggesting that this TYR deletion does not involve other functionally important contiguous genes.]. 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:8618053;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:57+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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}