@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP928850.RA1Qe8cUchusgwnHuTM6bBhE-TOIL5MZYP5NsbhMs_bLE> .
@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:NP928850.RA1Qe8cUchusgwnHuTM6bBhE-TOIL5MZYP5NsbhMs_bLE130_head {
  this: np:hasAssertion dgn-np:NP928850.RA1Qe8cUchusgwnHuTM6bBhE-TOIL5MZYP5NsbhMs_bLE130_assertion;
    np:hasProvenance dgn-np:NP928850.RA1Qe8cUchusgwnHuTM6bBhE-TOIL5MZYP5NsbhMs_bLE130_provenance;
    np:hasPublicationInfo dgn-np:NP928850.RA1Qe8cUchusgwnHuTM6bBhE-TOIL5MZYP5NsbhMs_bLE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP928850.RA1Qe8cUchusgwnHuTM6bBhE-TOIL5MZYP5NsbhMs_bLE130_assertion a np:Assertion .
  
  dgn-np:NP928850.RA1Qe8cUchusgwnHuTM6bBhE-TOIL5MZYP5NsbhMs_bLE130_provenance a np:Provenance .
  
  dgn-np:NP928850.RA1Qe8cUchusgwnHuTM6bBhE-TOIL5MZYP5NsbhMs_bLE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP928850.RA1Qe8cUchusgwnHuTM6bBhE-TOIL5MZYP5NsbhMs_bLE130_assertion {
  miriam-gene:10801 a ncit:C16612 .
  
  lld:C0432072 a ncit:C7057 .
  
  dgn-gda:DGNfacdfe5ef94a32c03392d679d5653f00 sio:SIO_000628 miriam-gene:10801, lld:C0432072;
    a sio:SIO_001121 .
}

dgn-np:NP928850.RA1Qe8cUchusgwnHuTM6bBhE-TOIL5MZYP5NsbhMs_bLE130_provenance {
  dgn-np:NP928850.RA1Qe8cUchusgwnHuTM6bBhE-TOIL5MZYP5NsbhMs_bLE130_assertion dcterms:description
      "[After confirming a heterozygous SEPT9 mutation (R88W) in the father and his mother, it became apparent that the dysmorphic features in the children were part of HNA and that previous complaints of the daughter, erroneously diagnosed as pronatio dolorosa and then epiphysiolysis of the capitellum humeri, were in fact a first neuralgic pain attack.]. 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:18492087;
    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:NP928850.RA1Qe8cUchusgwnHuTM6bBhE-TOIL5MZYP5NsbhMs_bLE130_publicationInfo {
  this: dcterms:created "2014-10-02T12:41:29+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" .
}