@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M> .
@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:NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M130_head {
  this: np:hasAssertion dgn-np:NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M130_assertion;
    np:hasProvenance dgn-np:NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M130_provenance;
    np:hasPublicationInfo dgn-np:NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M130_assertion a np:Assertion .
  
  dgn-np:NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M130_provenance a np:Provenance .
  
  dgn-np:NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M130_assertion {
  miriam-gene:6023 a ncit:C16612 .
  
  lld:C1834821 a ncit:C7057 .
  
  dgn-gda:DGNa5cbaaf9604c6770b64dfa2828eaeb53 sio:SIO_000628 miriam-gene:6023, lld:C1834821;
    a sio:SIO_001121 .
}

dgn-np:NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M130_provenance {
  dgn-np:NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M130_assertion dcterms:description
      "[Homozygosity mapping led to the identification of novel mutations in the RMRP gene, which was previously known to cause two milder types of short stature with susceptibility to cancer, cartilage hair hypoplasia, and metaphyseal dysplasia without hypotrichosis.]. 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:16252239;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:58+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" .
}