@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP236451.RAiO8j2eoiy5Dc5GedPY_HCuYxQ3sGBqSJtlNDInRcBhE> .
@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:NP236451.RAiO8j2eoiy5Dc5GedPY_HCuYxQ3sGBqSJtlNDInRcBhE130_head {
  this: np:hasAssertion dgn-np:NP236451.RAiO8j2eoiy5Dc5GedPY_HCuYxQ3sGBqSJtlNDInRcBhE130_assertion;
    np:hasProvenance dgn-np:NP236451.RAiO8j2eoiy5Dc5GedPY_HCuYxQ3sGBqSJtlNDInRcBhE130_provenance;
    np:hasPublicationInfo dgn-np:NP236451.RAiO8j2eoiy5Dc5GedPY_HCuYxQ3sGBqSJtlNDInRcBhE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP236451.RAiO8j2eoiy5Dc5GedPY_HCuYxQ3sGBqSJtlNDInRcBhE130_assertion a np:Assertion .
  
  dgn-np:NP236451.RAiO8j2eoiy5Dc5GedPY_HCuYxQ3sGBqSJtlNDInRcBhE130_provenance a np:Provenance .
  
  dgn-np:NP236451.RAiO8j2eoiy5Dc5GedPY_HCuYxQ3sGBqSJtlNDInRcBhE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP236451.RAiO8j2eoiy5Dc5GedPY_HCuYxQ3sGBqSJtlNDInRcBhE130_assertion {
  miriam-gene:10060 a ncit:C16612 .
  
  lld:C0406777 a ncit:C7057 .
  
  dgn-gda:DGN53ca74bde3ea5fa7b090f8646ee86611 sio:SIO_000628 miriam-gene:10060, lld:C0406777;
    a sio:SIO_001121 .
}

dgn-np:NP236451.RAiO8j2eoiy5Dc5GedPY_HCuYxQ3sGBqSJtlNDInRcBhE130_provenance {
  dgn-np:NP236451.RAiO8j2eoiy5Dc5GedPY_HCuYxQ3sGBqSJtlNDInRcBhE130_assertion dcterms:description
      "[Therefore, we propose that ABCC9 mutations lead to a spectrum of phenotypes formerly known as Cantú syndrome, HAFF and AFA, which may not be clearly distinguishable by clinical criteria, and that all patients with clinical signs belonging to this spectrum should be revisited and offered ABCC9 mutation analysis.]. 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:23307537;
    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:NP236451.RAiO8j2eoiy5Dc5GedPY_HCuYxQ3sGBqSJtlNDInRcBhE130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:12+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" .
}