@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY> .
@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:NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_head {
  this: np:hasAssertion dgn-np:NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_assertion;
    np:hasProvenance dgn-np:NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_provenance;
    np:hasPublicationInfo dgn-np:NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_assertion a np:Assertion .
  
  dgn-np:NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_provenance a np:Provenance .
  
  dgn-np:NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_assertion {
  miriam-gene:5979 a ncit:C16612 .
  
  lld:C0238463 a ncit:C7057 .
  
  dgn-gda:DGNee71252ec95fe71a190950e2291ba3d5 sio:SIO_000628 miriam-gene:5979, lld:C0238463;
    a sio:SIO_001122 .
}

dgn-np:NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_provenance {
  dgn-np:NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_assertion dcterms:description
      "[ We report a full clinical and molecular analysis of a large FMTC kindred with an uncommon RET mutation. In two family members, phenotype and genotype were not concordant, representing the first evidence of FMTC phenocopies. Furthermore, the association of familial forms of medullary and papillary thyroid cancers has been found in 30% of patients undergoing thyroidectomy for MTC. In these situations, genetic analyses excluded the possible germline involvement of RET. Though FMTC phenocopies are likely to represent an exceptional finding, such a possibility should be taken into account in the genetic counselling for MEN 2 syndromes.]. 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:11849247;
    prov:wasDerivedFrom dgn-void:gad-20130706;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_publicationInfo {
  this: dcterms:created "2014-10-02T12:32:24+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" .
}