@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP246829.RADqdbW-zRlmUYtdHFS_QX42m4yQSyeErxHMQu1Zcq4Wo> .
@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:NP246829.RADqdbW-zRlmUYtdHFS_QX42m4yQSyeErxHMQu1Zcq4Wo130_head {
  this: np:hasAssertion dgn-np:NP246829.RADqdbW-zRlmUYtdHFS_QX42m4yQSyeErxHMQu1Zcq4Wo130_assertion;
    np:hasProvenance dgn-np:NP246829.RADqdbW-zRlmUYtdHFS_QX42m4yQSyeErxHMQu1Zcq4Wo130_provenance;
    np:hasPublicationInfo dgn-np:NP246829.RADqdbW-zRlmUYtdHFS_QX42m4yQSyeErxHMQu1Zcq4Wo130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP246829.RADqdbW-zRlmUYtdHFS_QX42m4yQSyeErxHMQu1Zcq4Wo130_assertion a np:Assertion .
  
  dgn-np:NP246829.RADqdbW-zRlmUYtdHFS_QX42m4yQSyeErxHMQu1Zcq4Wo130_provenance a np:Provenance .
  
  dgn-np:NP246829.RADqdbW-zRlmUYtdHFS_QX42m4yQSyeErxHMQu1Zcq4Wo130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP246829.RADqdbW-zRlmUYtdHFS_QX42m4yQSyeErxHMQu1Zcq4Wo130_assertion {
  miriam-gene:2261 a ncit:C16612 .
  
  lld:C0001080 a ncit:C7057 .
  
  dgn-gda:DGN1c60af62499afe2d04be0cc9e48826bd sio:SIO_000628 miriam-gene:2261, lld:C0001080;
    a sio:SIO_001122 .
}

dgn-np:NP246829.RADqdbW-zRlmUYtdHFS_QX42m4yQSyeErxHMQu1Zcq4Wo130_provenance {
  dgn-np:NP246829.RADqdbW-zRlmUYtdHFS_QX42m4yQSyeErxHMQu1Zcq4Wo130_assertion dcterms:description
      "[We refer to the phenotype caused by the Lys650Met mutation as severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations.]. 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:10053006;
    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:NP246829.RADqdbW-zRlmUYtdHFS_QX42m4yQSyeErxHMQu1Zcq4Wo130_publicationInfo {
  this: dcterms:created "2016-05-13T12:43:38+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" .
}