@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP305732.RAuJtNJzTL8sLitJgQsYBHCm1HuRD6T9mirLHNwer1-nM> .
@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:NP305732.RAuJtNJzTL8sLitJgQsYBHCm1HuRD6T9mirLHNwer1-nM130_head {
   this: np:hasAssertion dgn-np:NP305732.RAuJtNJzTL8sLitJgQsYBHCm1HuRD6T9mirLHNwer1-nM130_assertion ;
    np:hasProvenance dgn-np:NP305732.RAuJtNJzTL8sLitJgQsYBHCm1HuRD6T9mirLHNwer1-nM130_provenance ;
    np:hasPublicationInfo dgn-np:NP305732.RAuJtNJzTL8sLitJgQsYBHCm1HuRD6T9mirLHNwer1-nM130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP305732.RAuJtNJzTL8sLitJgQsYBHCm1HuRD6T9mirLHNwer1-nM130_assertion a np:Assertion .
  dgn-np:NP305732.RAuJtNJzTL8sLitJgQsYBHCm1HuRD6T9mirLHNwer1-nM130_provenance a np:Provenance .
  dgn-np:NP305732.RAuJtNJzTL8sLitJgQsYBHCm1HuRD6T9mirLHNwer1-nM130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP305732.RAuJtNJzTL8sLitJgQsYBHCm1HuRD6T9mirLHNwer1-nM130_assertion {
   miriam-gene:2643 a ncit:C16612 .
  lld:C0014544 a ncit:C7057 .
  dgn-gda:DGN33b7dd319be63c5c5b78177b12981956 sio:SIO_000628 miriam-gene:2643 , lld:C0014544 ;
    a sio:SIO_001121 .
}
dgn-np:NP305732.RAuJtNJzTL8sLitJgQsYBHCm1HuRD6T9mirLHNwer1-nM130_provenance {
   dgn-np:NP305732.RAuJtNJzTL8sLitJgQsYBHCm1HuRD6T9mirLHNwer1-nM130_assertion dcterms:description "[The phenotypes of recessive GCH deficiency are severe and complex, such as hyperphenylalaninemia, muscle hypotonia, epilepsy, and fever episode, and may be caused by deficiencies of various neurotransmitters, including dopamine, norepinephrine, serotonin, and NO.]. 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:10321973 ;
    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:NP305732.RAuJtNJzTL8sLitJgQsYBHCm1HuRD6T9mirLHNwer1-nM130_publicationInfo {
   this: dcterms:created "2014-10-02T12:34:55+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" .
}