@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP31929.RAfDdvkuaxNlsqaAeJWg6JYvHBB0hPH76vq9AAKOC37qQ> .
@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:NP31929.RAfDdvkuaxNlsqaAeJWg6JYvHBB0hPH76vq9AAKOC37qQ130_head {
  this: np:hasAssertion dgn-np:NP31929.RAfDdvkuaxNlsqaAeJWg6JYvHBB0hPH76vq9AAKOC37qQ130_assertion;
    np:hasProvenance dgn-np:NP31929.RAfDdvkuaxNlsqaAeJWg6JYvHBB0hPH76vq9AAKOC37qQ130_provenance;
    np:hasPublicationInfo dgn-np:NP31929.RAfDdvkuaxNlsqaAeJWg6JYvHBB0hPH76vq9AAKOC37qQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP31929.RAfDdvkuaxNlsqaAeJWg6JYvHBB0hPH76vq9AAKOC37qQ130_assertion a np:Assertion .
  
  dgn-np:NP31929.RAfDdvkuaxNlsqaAeJWg6JYvHBB0hPH76vq9AAKOC37qQ130_provenance a np:Provenance .
  
  dgn-np:NP31929.RAfDdvkuaxNlsqaAeJWg6JYvHBB0hPH76vq9AAKOC37qQ130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP31929.RAfDdvkuaxNlsqaAeJWg6JYvHBB0hPH76vq9AAKOC37qQ130_assertion {
  miriam-gene:26277 a ncit:C16612 .
  
  lld:C0027339 a ncit:C7057 .
  
  dgn-gda:DGN15035d244f371d764bcb07de28ac6d6c sio:SIO_000628 miriam-gene:26277, lld:C0027339;
    a sio:SIO_001121 .
}

dgn-np:NP31929.RAfDdvkuaxNlsqaAeJWg6JYvHBB0hPH76vq9AAKOC37qQ130_provenance {
  dgn-np:NP31929.RAfDdvkuaxNlsqaAeJWg6JYvHBB0hPH76vq9AAKOC37qQ130_assertion dcterms:description
      "[Evidence favoring linkage was found at 2p24 and 14q11.2, and this led to the identification of TINF2 (14q11.2) mutations, K280E, in the proband and her five affected relatives and TINF2 R282H in three additional unrelated DC probands, including one with Revesz syndrome; a fifth DC proband had a R282S mutation.]. 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:18252230;
    prov:wasDerivedFrom dgn-void:ctd_human-20130708;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:ctd_human-20130708 pav:importedOn "2013-07-24"^^xsd:date .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
}

dgn-np:NP31929.RAfDdvkuaxNlsqaAeJWg6JYvHBB0hPH76vq9AAKOC37qQ130_publicationInfo {
  this: dcterms:created "2014-10-02T12:32:13+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" .
}