@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP297391.RAPvq_EaTQrZpuve7ESOL9Q92BbzsU8PhWf1bPy8hGHnc> .
@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/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@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/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v4.0.0/void/> .
dgn-np:NP297391.RAPvq_EaTQrZpuve7ESOL9Q92BbzsU8PhWf1bPy8hGHnc130_head {
   this: np:hasAssertion dgn-np:NP297391.RAPvq_EaTQrZpuve7ESOL9Q92BbzsU8PhWf1bPy8hGHnc130_assertion ;
    np:hasProvenance dgn-np:NP297391.RAPvq_EaTQrZpuve7ESOL9Q92BbzsU8PhWf1bPy8hGHnc130_provenance ;
    np:hasPublicationInfo dgn-np:NP297391.RAPvq_EaTQrZpuve7ESOL9Q92BbzsU8PhWf1bPy8hGHnc130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP297391.RAPvq_EaTQrZpuve7ESOL9Q92BbzsU8PhWf1bPy8hGHnc130_assertion a np:Assertion .
  dgn-np:NP297391.RAPvq_EaTQrZpuve7ESOL9Q92BbzsU8PhWf1bPy8hGHnc130_provenance a np:Provenance .
  dgn-np:NP297391.RAPvq_EaTQrZpuve7ESOL9Q92BbzsU8PhWf1bPy8hGHnc130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP297391.RAPvq_EaTQrZpuve7ESOL9Q92BbzsU8PhWf1bPy8hGHnc130_assertion {
   miriam-gene:2261 a ncit:C16612 .
  lld:C0013336 a ncit:C7057 .
  dgn-gda:DGN0a50544a87664d6842fc9cb432b6034b sio:SIO_000628 miriam-gene:2261 , lld:C0013336 ;
    a sio:SIO_001121 .
}
dgn-np:NP297391.RAPvq_EaTQrZpuve7ESOL9Q92BbzsU8PhWf1bPy8hGHnc130_provenance {
   dgn-np:NP297391.RAPvq_EaTQrZpuve7ESOL9Q92BbzsU8PhWf1bPy8hGHnc130_assertion dcterms:description "[Point mutations and deletions of the short stature homeobox containing gene (SHOX) are detected in DCO and idiopathic short stature with some rhizomelic body disproportion, whereas mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are found in 40-70% of HCH cases.]. 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:11030412 ;
    prov:wasDerivedFrom dgn-void:befree-2016 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP297391.RAPvq_EaTQrZpuve7ESOL9Q92BbzsU8PhWf1bPy8hGHnc130_publicationInfo {
   this: dcterms:created "2016-05-13T12:44:00+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:disgenetv3.0rdf ;
    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 "v4.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}