@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP739660.RATZ9I9cjJQHZagiZYK1kCIKf6k_HJaUeEX1DuOhZ25Kg> .
@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:NP739660.RATZ9I9cjJQHZagiZYK1kCIKf6k_HJaUeEX1DuOhZ25Kg130_head {
  this: np:hasAssertion dgn-np:NP739660.RATZ9I9cjJQHZagiZYK1kCIKf6k_HJaUeEX1DuOhZ25Kg130_assertion;
    np:hasProvenance dgn-np:NP739660.RATZ9I9cjJQHZagiZYK1kCIKf6k_HJaUeEX1DuOhZ25Kg130_provenance;
    np:hasPublicationInfo dgn-np:NP739660.RATZ9I9cjJQHZagiZYK1kCIKf6k_HJaUeEX1DuOhZ25Kg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP739660.RATZ9I9cjJQHZagiZYK1kCIKf6k_HJaUeEX1DuOhZ25Kg130_assertion a np:Assertion .
  
  dgn-np:NP739660.RATZ9I9cjJQHZagiZYK1kCIKf6k_HJaUeEX1DuOhZ25Kg130_provenance a np:Provenance .
  
  dgn-np:NP739660.RATZ9I9cjJQHZagiZYK1kCIKf6k_HJaUeEX1DuOhZ25Kg130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP739660.RATZ9I9cjJQHZagiZYK1kCIKf6k_HJaUeEX1DuOhZ25Kg130_assertion {
  miriam-gene:2261 a ncit:C16612 .
  
  lld:C0343284 a ncit:C7057 .
  
  dgn-gda:DGN6d0493e06647dc7932b07734d28f8305 sio:SIO_000628 miriam-gene:2261, lld:C0343284;
    a sio:SIO_001121 .
}

dgn-np:NP739660.RATZ9I9cjJQHZagiZYK1kCIKf6k_HJaUeEX1DuOhZ25Kg130_provenance {
  dgn-np:NP739660.RATZ9I9cjJQHZagiZYK1kCIKf6k_HJaUeEX1DuOhZ25Kg130_assertion dcterms:description
      "[In this patient with thanatophoric dysplasia, we conclude that the presence of the double FGFR3 missense mutation on the same allele alters the receptor structure, holding the receptor in its fully activated state, thus leading to lethal chondrodysplasia.]. 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:19449430;
    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:NP739660.RATZ9I9cjJQHZagiZYK1kCIKf6k_HJaUeEX1DuOhZ25Kg130_publicationInfo {
  this: dcterms:created "2016-05-13T12:47:20+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" .
}