@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA> .
@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:NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA130_head {
  this: np:hasAssertion dgn-np:NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA130_assertion;
    np:hasProvenance dgn-np:NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA130_provenance;
    np:hasPublicationInfo dgn-np:NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA130_assertion a np:Assertion .
  
  dgn-np:NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA130_provenance a np:Provenance .
  
  dgn-np:NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA130_assertion {
  miriam-gene:1861 a ncit:C16612 .
  
  lld:C1997740 a ncit:C7057 .
  
  dgn-gda:DGN41b0f9231960e5f9b548ab43e39e6b71 sio:SIO_000628 miriam-gene:1861, lld:C1997740;
    a sio:SIO_001121 .
}

dgn-np:NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA130_provenance {
  dgn-np:NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA130_assertion dcterms:description
      "[To determine the frequency of this mutation in a larger series of patients, we examined 44 index patients with sporadic or familial (seven patients) writer's cramp for the presence of the DYT1 GAG deletion, including eight patients with segmental dystonia involving at least one upper limb.]. 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:11104212;
    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:NP390064.RAR8UL6Os4NeaHvix_SaVB1Ik81fS2NpE9HTcPkYmhOSA130_publicationInfo {
  this: dcterms:created "2014-10-02T12:35:52+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" .
}