@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP972604.RAZVsvuL3OEX3VtOby9_CuVSPjvD8d7ryrR88Tl6Q60rE> .
@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/v3.0.0/void/> .

dgn-np:NP972604.RAZVsvuL3OEX3VtOby9_CuVSPjvD8d7ryrR88Tl6Q60rE130_head {
  this: np:hasAssertion dgn-np:NP972604.RAZVsvuL3OEX3VtOby9_CuVSPjvD8d7ryrR88Tl6Q60rE130_assertion;
    np:hasProvenance dgn-np:NP972604.RAZVsvuL3OEX3VtOby9_CuVSPjvD8d7ryrR88Tl6Q60rE130_provenance;
    np:hasPublicationInfo dgn-np:NP972604.RAZVsvuL3OEX3VtOby9_CuVSPjvD8d7ryrR88Tl6Q60rE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP972604.RAZVsvuL3OEX3VtOby9_CuVSPjvD8d7ryrR88Tl6Q60rE130_assertion a np:Assertion .
  
  dgn-np:NP972604.RAZVsvuL3OEX3VtOby9_CuVSPjvD8d7ryrR88Tl6Q60rE130_provenance a np:Provenance .
  
  dgn-np:NP972604.RAZVsvuL3OEX3VtOby9_CuVSPjvD8d7ryrR88Tl6Q60rE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP972604.RAZVsvuL3OEX3VtOby9_CuVSPjvD8d7ryrR88Tl6Q60rE130_assertion {
  miriam-gene:138428 a ncit:C16612 .
  
  lld:C1832645 a ncit:C7057 .
  
  dgn-gda:DGNa6ab69be3b6c46fd6c3e1453b8b54055 sio:SIO_000628 miriam-gene:138428, lld:C1832645;
    a sio:SIO_001123 .
}

dgn-np:NP972604.RAZVsvuL3OEX3VtOby9_CuVSPjvD8d7ryrR88Tl6Q60rE130_provenance {
  dgn-np:NP972604.RAZVsvuL3OEX3VtOby9_CuVSPjvD8d7ryrR88Tl6Q60rE130_assertion dcterms:description
      "[In a case of neonatal severe hyperparathyroidism characterized by moderately severe hypercalcemia and very high PTH levels, coupled with evidence of hyperparathyroidism and effects on brain development not previously demonstrated, we detected point mutations on separate alleles of the CaR, resulting in premature stop codon substitutions at G94 and R648.]. 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:15292296;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP972604.RAZVsvuL3OEX3VtOby9_CuVSPjvD8d7ryrR88Tl6Q60rE130_publicationInfo {
  this: dcterms:created "2015-08-25T14:47:34+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}