@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP424860.RA0fVk3QibkWmt5Cq8tVs2u8YMfHdBzxPHvkI2668APLg> .
@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 dcterms: <http://purl.org/dc/terms/> .
@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:NP424860.RA0fVk3QibkWmt5Cq8tVs2u8YMfHdBzxPHvkI2668APLg130_head {
  this: np:hasAssertion dgn-np:NP424860.RA0fVk3QibkWmt5Cq8tVs2u8YMfHdBzxPHvkI2668APLg130_assertion;
    np:hasProvenance dgn-np:NP424860.RA0fVk3QibkWmt5Cq8tVs2u8YMfHdBzxPHvkI2668APLg130_provenance;
    np:hasPublicationInfo dgn-np:NP424860.RA0fVk3QibkWmt5Cq8tVs2u8YMfHdBzxPHvkI2668APLg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP424860.RA0fVk3QibkWmt5Cq8tVs2u8YMfHdBzxPHvkI2668APLg130_assertion a np:Assertion .
  
  dgn-np:NP424860.RA0fVk3QibkWmt5Cq8tVs2u8YMfHdBzxPHvkI2668APLg130_provenance a np:Provenance .
  
  dgn-np:NP424860.RA0fVk3QibkWmt5Cq8tVs2u8YMfHdBzxPHvkI2668APLg130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP424860.RA0fVk3QibkWmt5Cq8tVs2u8YMfHdBzxPHvkI2668APLg130_assertion {
  miriam-gene:1001 a ncit:C16612 .
  
  lld:C0339508 a ncit:C7057 .
  
  dgn-gda:DGN369a451726156c3a9a41abb841489e52 sio:SIO_000628 miriam-gene:1001, lld:C0339508;
    a sio:SIO_001121 .
}

dgn-np:NP424860.RA0fVk3QibkWmt5Cq8tVs2u8YMfHdBzxPHvkI2668APLg130_provenance {
  dgn-np:NP424860.RA0fVk3QibkWmt5Cq8tVs2u8YMfHdBzxPHvkI2668APLg130_assertion dcterms:description
      "[Altogether, our results obtained in a series of families of various ethnic origins firmly establish mutations in CDH3 as the proximal cause of hypotrichosis with juvenile macular dystrophy and demonstrate genetic homogeneity as well as phenotypic heterogeneity in this disorder.]. 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:14708629;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP424860.RA0fVk3QibkWmt5Cq8tVs2u8YMfHdBzxPHvkI2668APLg130_publicationInfo {
  this: dcterms:created "2014-10-02T12:36:12+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: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" .
}