@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP591716.RAgqAdY3J8mQYRtB8EG7GF2_8Igxso5TRGJqfWDKktYzM> .
@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:NP591716.RAgqAdY3J8mQYRtB8EG7GF2_8Igxso5TRGJqfWDKktYzM130_head {
  this: np:hasAssertion dgn-np:NP591716.RAgqAdY3J8mQYRtB8EG7GF2_8Igxso5TRGJqfWDKktYzM130_assertion;
    np:hasProvenance dgn-np:NP591716.RAgqAdY3J8mQYRtB8EG7GF2_8Igxso5TRGJqfWDKktYzM130_provenance;
    np:hasPublicationInfo dgn-np:NP591716.RAgqAdY3J8mQYRtB8EG7GF2_8Igxso5TRGJqfWDKktYzM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP591716.RAgqAdY3J8mQYRtB8EG7GF2_8Igxso5TRGJqfWDKktYzM130_assertion a np:Assertion .
  
  dgn-np:NP591716.RAgqAdY3J8mQYRtB8EG7GF2_8Igxso5TRGJqfWDKktYzM130_provenance a np:Provenance .
  
  dgn-np:NP591716.RAgqAdY3J8mQYRtB8EG7GF2_8Igxso5TRGJqfWDKktYzM130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP591716.RAgqAdY3J8mQYRtB8EG7GF2_8Igxso5TRGJqfWDKktYzM130_assertion {
  miriam-gene:92170 a ncit:C16612 .
  
  lld:C0026837 a ncit:C7057 .
  
  dgn-gda:DGN104773964f56f1172c4bc4f6aec43f49 sio:SIO_000628 miriam-gene:92170, lld:C0026837;
    a sio:SIO_001121 .
}

dgn-np:NP591716.RAgqAdY3J8mQYRtB8EG7GF2_8Igxso5TRGJqfWDKktYzM130_provenance {
  dgn-np:NP591716.RAgqAdY3J8mQYRtB8EG7GF2_8Igxso5TRGJqfWDKktYzM130_assertion dcterms:description
      "[The authors report two twin sisters, age 15 years, with recessive GTP cyclohydrolase deficiency, who presented with neonatal onset of rigidity, tremor, and dystonia but with no other symptoms suggestive of a diffuse CNS involvement.]. 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:12552057;
    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:NP591716.RAgqAdY3J8mQYRtB8EG7GF2_8Igxso5TRGJqfWDKktYzM130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:56+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" .
}