@prefix dc: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s> .
@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/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_head {
  this: np:hasAssertion dgn-np:NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_assertion;
    np:hasProvenance dgn-np:NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_provenance;
    np:hasPublicationInfo dgn-np:NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_assertion a np:Assertion .
  
  dgn-np:NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_provenance a np:Provenance .
  
  dgn-np:NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_assertion {
  miriam-gene:182 a ncit:C16612 .
  
  lld:C0039685 a ncit:C7057 .
  
  dgn-gda:DGN6bbf30e06932ec0965b04293d347516b sio:SIO_000628 miriam-gene:182, lld:C0039685;
    a sio:SIO_001122 .
}

dgn-np:NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_provenance {
  dgn-np:NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_assertion dc:description
      "[We have studied a JAG1 missense mutation (JAG1-G274D) that was previously identified in 13 individuals from an extended family with cardiac defects of the type seen in patients with AGS (e.g., peripheral pulmonic stenosis and tetralogy of Fallot) in the absence of liver dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_curated;
    sio:SIO_000772 miriam-pubmed:12649809;
    prov:wasDerivedFrom dgn-void:uniprot-20130724;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  
  dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}

dgn-np:NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_publicationInfo {
  this: dc:created "2014-10-02T12:31:59+02:00"^^xsd:dateTime;
    dc:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dc:rightsHolder dgn-void:IBIGroup;
    dc:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}