@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP672352.RAewTc5QGF1SP5rsiw7qFS7NYq7HSJ8Jyld85EQAyYNII> .
@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:NP672352.RAewTc5QGF1SP5rsiw7qFS7NYq7HSJ8Jyld85EQAyYNII130_head {
   this: np:hasAssertion dgn-np:NP672352.RAewTc5QGF1SP5rsiw7qFS7NYq7HSJ8Jyld85EQAyYNII130_assertion ;
    np:hasProvenance dgn-np:NP672352.RAewTc5QGF1SP5rsiw7qFS7NYq7HSJ8Jyld85EQAyYNII130_provenance ;
    np:hasPublicationInfo dgn-np:NP672352.RAewTc5QGF1SP5rsiw7qFS7NYq7HSJ8Jyld85EQAyYNII130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP672352.RAewTc5QGF1SP5rsiw7qFS7NYq7HSJ8Jyld85EQAyYNII130_assertion a np:Assertion .
  dgn-np:NP672352.RAewTc5QGF1SP5rsiw7qFS7NYq7HSJ8Jyld85EQAyYNII130_provenance a np:Provenance .
  dgn-np:NP672352.RAewTc5QGF1SP5rsiw7qFS7NYq7HSJ8Jyld85EQAyYNII130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP672352.RAewTc5QGF1SP5rsiw7qFS7NYq7HSJ8Jyld85EQAyYNII130_assertion {
   miriam-gene:6023 a ncit:C16612 .
  lld:C0220748 a ncit:C7057 .
  dgn-gda:DGN14a2e9e5d944b3f63c06f424a04e3c26 sio:SIO_000628 miriam-gene:6023 , lld:C0220748 ;
    a sio:SIO_001121 .
}
dgn-np:NP672352.RAewTc5QGF1SP5rsiw7qFS7NYq7HSJ8Jyld85EQAyYNII130_provenance {
   dgn-np:NP672352.RAewTc5QGF1SP5rsiw7qFS7NYq7HSJ8Jyld85EQAyYNII130_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-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:NP672352.RAewTc5QGF1SP5rsiw7qFS7NYq7HSJ8Jyld85EQAyYNII130_publicationInfo {
   this: dcterms:created "2015-08-25T14:44:24+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: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" .
}