@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1390624.RAU43QK3XWjx2sDkqVYPhXiRSHvmekEkVTnKaOVQ5bBV4> .
@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:NP1390624.RAU43QK3XWjx2sDkqVYPhXiRSHvmekEkVTnKaOVQ5bBV4130_head {
  this: np:hasAssertion dgn-np:NP1390624.RAU43QK3XWjx2sDkqVYPhXiRSHvmekEkVTnKaOVQ5bBV4130_assertion;
    np:hasProvenance dgn-np:NP1390624.RAU43QK3XWjx2sDkqVYPhXiRSHvmekEkVTnKaOVQ5bBV4130_provenance;
    np:hasPublicationInfo dgn-np:NP1390624.RAU43QK3XWjx2sDkqVYPhXiRSHvmekEkVTnKaOVQ5bBV4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1390624.RAU43QK3XWjx2sDkqVYPhXiRSHvmekEkVTnKaOVQ5bBV4130_assertion a np:Assertion .
  
  dgn-np:NP1390624.RAU43QK3XWjx2sDkqVYPhXiRSHvmekEkVTnKaOVQ5bBV4130_provenance a np:Provenance .
  
  dgn-np:NP1390624.RAU43QK3XWjx2sDkqVYPhXiRSHvmekEkVTnKaOVQ5bBV4130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1390624.RAU43QK3XWjx2sDkqVYPhXiRSHvmekEkVTnKaOVQ5bBV4130_assertion {
  miriam-gene:2263 a ncit:C16612 .
  
  lld:C0010278 a ncit:C7057 .
  
  dgn-gda:DGN7162e92f68ca81d40a35256bc6d804c7 sio:SIO_000628 miriam-gene:2263, lld:C0010278;
    a sio:SIO_001121 .
}

dgn-np:NP1390624.RAU43QK3XWjx2sDkqVYPhXiRSHvmekEkVTnKaOVQ5bBV4130_provenance {
  dgn-np:NP1390624.RAU43QK3XWjx2sDkqVYPhXiRSHvmekEkVTnKaOVQ5bBV4130_assertion dcterms:description
      "[The results show that Apert FGFR-2 mutations lead to an increase in the number of precursor cells that enter the osteogenic pathway, leading ultimately to increased subperiosteal bone matrix formation and premature calvaria ossification during fetal development, which establishes a connection between the altered genotype and cellular phenotype in Apert syndromic craniosynostosis.]. 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:9502772;
    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:NP1390624.RAU43QK3XWjx2sDkqVYPhXiRSHvmekEkVTnKaOVQ5bBV4130_publicationInfo {
  this: dcterms:created "2016-05-13T12:52:16+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" .
}