@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP615009.RAdIzuNiEQDeTJK7_XKPQwXocrY94ePBJ979_89WVNyqk> .
@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:NP615009.RAdIzuNiEQDeTJK7_XKPQwXocrY94ePBJ979_89WVNyqk130_head {
  this: np:hasAssertion dgn-np:NP615009.RAdIzuNiEQDeTJK7_XKPQwXocrY94ePBJ979_89WVNyqk130_assertion;
    np:hasProvenance dgn-np:NP615009.RAdIzuNiEQDeTJK7_XKPQwXocrY94ePBJ979_89WVNyqk130_provenance;
    np:hasPublicationInfo dgn-np:NP615009.RAdIzuNiEQDeTJK7_XKPQwXocrY94ePBJ979_89WVNyqk130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP615009.RAdIzuNiEQDeTJK7_XKPQwXocrY94ePBJ979_89WVNyqk130_assertion a np:Assertion .
  
  dgn-np:NP615009.RAdIzuNiEQDeTJK7_XKPQwXocrY94ePBJ979_89WVNyqk130_provenance a np:Provenance .
  
  dgn-np:NP615009.RAdIzuNiEQDeTJK7_XKPQwXocrY94ePBJ979_89WVNyqk130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP615009.RAdIzuNiEQDeTJK7_XKPQwXocrY94ePBJ979_89WVNyqk130_assertion {
  miriam-gene:23607 a ncit:C16612 .
  
  lld:C1112261 a ncit:C7057 .
  
  dgn-gda:DGN278c8ad7cff7f0f52dd9f8bf2c32bfca sio:SIO_000628 miriam-gene:23607, lld:C1112261;
    a sio:SIO_001121 .
}

dgn-np:NP615009.RAdIzuNiEQDeTJK7_XKPQwXocrY94ePBJ979_89WVNyqk130_provenance {
  dgn-np:NP615009.RAdIzuNiEQDeTJK7_XKPQwXocrY94ePBJ979_89WVNyqk130_assertion dcterms:description
      "[We report here an Iranian patient in whom CMS was diagnosed since he presented with congenital and fluctuating bilateral symmetric ptosis, upward gaze palsy and slowly progressive muscle weakness leading to loss of ambulation.]. 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:23326516;
    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:NP615009.RAdIzuNiEQDeTJK7_XKPQwXocrY94ePBJ979_89WVNyqk130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:12+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" .
}