@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP753034.RADvHZg7PB5Dv_cnp-pBAEXBBaFlXS3bRxD3XY8MNgi0o> .
@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/v4.0.0/void/> .
dgn-np:NP753034.RADvHZg7PB5Dv_cnp-pBAEXBBaFlXS3bRxD3XY8MNgi0o130_head {
   this: np:hasAssertion dgn-np:NP753034.RADvHZg7PB5Dv_cnp-pBAEXBBaFlXS3bRxD3XY8MNgi0o130_assertion ;
    np:hasProvenance dgn-np:NP753034.RADvHZg7PB5Dv_cnp-pBAEXBBaFlXS3bRxD3XY8MNgi0o130_provenance ;
    np:hasPublicationInfo dgn-np:NP753034.RADvHZg7PB5Dv_cnp-pBAEXBBaFlXS3bRxD3XY8MNgi0o130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP753034.RADvHZg7PB5Dv_cnp-pBAEXBBaFlXS3bRxD3XY8MNgi0o130_assertion a np:Assertion .
  dgn-np:NP753034.RADvHZg7PB5Dv_cnp-pBAEXBBaFlXS3bRxD3XY8MNgi0o130_provenance a np:Provenance .
  dgn-np:NP753034.RADvHZg7PB5Dv_cnp-pBAEXBBaFlXS3bRxD3XY8MNgi0o130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP753034.RADvHZg7PB5Dv_cnp-pBAEXBBaFlXS3bRxD3XY8MNgi0o130_assertion {
   miriam-gene:6023 a ncit:C16612 .
  lld:C0020438 a ncit:C7057 .
  dgn-gda:DGN09e2a1b9ebd407416561128986771057 sio:SIO_000628 miriam-gene:6023 , lld:C0020438 ;
    a sio:SIO_001121 .
}
dgn-np:NP753034.RADvHZg7PB5Dv_cnp-pBAEXBBaFlXS3bRxD3XY8MNgi0o130_provenance {
   dgn-np:NP753034.RADvHZg7PB5Dv_cnp-pBAEXBBaFlXS3bRxD3XY8MNgi0o130_assertion dcterms:description "[We report on a 12-year-old girl with a new mutation of the RMRP gene and a severe multisystemic CHH (hematological and pulmonary lesions, severe immune deficiency, arthritis, pancreatic insufficiency, malabsorption, chronic diarrhea) receiving parenteral nutrition who presented with acute symptomatic hypocalcemia and hypercalciuria associated with the presence of autoantibodies directed against the calcium-sensor receptor.]. 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:19626344 ;
    prov:wasDerivedFrom dgn-void:befree-2016 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP753034.RADvHZg7PB5Dv_cnp-pBAEXBBaFlXS3bRxD3XY8MNgi0o130_publicationInfo {
   this: dcterms:created "2016-05-13T12:47:26+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 "v4.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}