@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP180242.RAC4T6odl6spLWSwX26DPc4YkdSSU8ghJ_3KCE7Qz_4Dg> .
@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/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@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/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP180242.RAC4T6odl6spLWSwX26DPc4YkdSSU8ghJ_3KCE7Qz_4Dg130_head {
  this: np:hasAssertion dgn-np:NP180242.RAC4T6odl6spLWSwX26DPc4YkdSSU8ghJ_3KCE7Qz_4Dg130_assertion;
    np:hasProvenance dgn-np:NP180242.RAC4T6odl6spLWSwX26DPc4YkdSSU8ghJ_3KCE7Qz_4Dg130_provenance;
    np:hasPublicationInfo dgn-np:NP180242.RAC4T6odl6spLWSwX26DPc4YkdSSU8ghJ_3KCE7Qz_4Dg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP180242.RAC4T6odl6spLWSwX26DPc4YkdSSU8ghJ_3KCE7Qz_4Dg130_assertion a np:Assertion .
  
  dgn-np:NP180242.RAC4T6odl6spLWSwX26DPc4YkdSSU8ghJ_3KCE7Qz_4Dg130_provenance a np:Provenance .
  
  dgn-np:NP180242.RAC4T6odl6spLWSwX26DPc4YkdSSU8ghJ_3KCE7Qz_4Dg130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP180242.RAC4T6odl6spLWSwX26DPc4YkdSSU8ghJ_3KCE7Qz_4Dg130_assertion {
  miriam-gene:4286 a ncit:C16612 .
  
  lld:C0206138 a ncit:C7057 .
  
  dgn-gda:DGN89bc553392cd090d9105525b7bf88aa8 sio:SIO_000628 miriam-gene:4286, lld:C0206138;
    a sio:SIO_001121 .
}

dgn-np:NP180242.RAC4T6odl6spLWSwX26DPc4YkdSSU8ghJ_3KCE7Qz_4Dg130_provenance {
  dgn-np:NP180242.RAC4T6odl6spLWSwX26DPc4YkdSSU8ghJ_3KCE7Qz_4Dg130_assertion dcterms:description
      "[We conclude that Type 1 and Type 3 WS are allelic and are normally caused by loss of function mutations in PAX3; that Type 2 WS is heterogeneous, with about 20% of cases caused by mutations in MITF, and that individuals with auditory, pigmentary or neural crest syndromes which do not fit stringent definitions of Waardenburg syndrome are unlikely to have mutations in either the PAX3 or MITF 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:8589691;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP180242.RAC4T6odl6spLWSwX26DPc4YkdSSU8ghJ_3KCE7Qz_4Dg130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:37+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:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}