@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I> .
@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:NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I130_head {
  this: np:hasAssertion dgn-np:NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I130_assertion;
    np:hasProvenance dgn-np:NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I130_provenance;
    np:hasPublicationInfo dgn-np:NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I130_assertion a np:Assertion .
  
  dgn-np:NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I130_provenance a np:Provenance .
  
  dgn-np:NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I130_assertion {
  miriam-gene:6383 a ncit:C16612 .
  
  lld:C1835450 a ncit:C7057 .
  
  dgn-gda:DGNcac9833a5efe7a520fe0e461aa59a242 sio:SIO_000628 miriam-gene:6383, lld:C1835450;
    a sio:SIO_001121 .
}

dgn-np:NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I130_provenance {
  dgn-np:NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I130_assertion dcterms:description
      "[Our work identifies the genetic cause of LP in these two families, demonstrates the phenotypic range of the condition, implicates dysregulation of extracellular matrix homoeostasis genes in its pathogenesis, and highlights the link between TGF-β/SMAD signalling, growth/differentiation factor 6 and syndecan-2.]. 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:24442880;
    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:NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I130_publicationInfo {
  this: dcterms:created "2016-05-13T12:50:26+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" .
}