@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP806980.RAZROaW5vub7d2AafnsR0Bldlx0haFOd3qBTV02FWm3R8> .
@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:NP806980.RAZROaW5vub7d2AafnsR0Bldlx0haFOd3qBTV02FWm3R8130_head {
  this: np:hasAssertion dgn-np:NP806980.RAZROaW5vub7d2AafnsR0Bldlx0haFOd3qBTV02FWm3R8130_assertion;
    np:hasProvenance dgn-np:NP806980.RAZROaW5vub7d2AafnsR0Bldlx0haFOd3qBTV02FWm3R8130_provenance;
    np:hasPublicationInfo dgn-np:NP806980.RAZROaW5vub7d2AafnsR0Bldlx0haFOd3qBTV02FWm3R8130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP806980.RAZROaW5vub7d2AafnsR0Bldlx0haFOd3qBTV02FWm3R8130_assertion a np:Assertion .
  
  dgn-np:NP806980.RAZROaW5vub7d2AafnsR0Bldlx0haFOd3qBTV02FWm3R8130_provenance a np:Provenance .
  
  dgn-np:NP806980.RAZROaW5vub7d2AafnsR0Bldlx0haFOd3qBTV02FWm3R8130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP806980.RAZROaW5vub7d2AafnsR0Bldlx0haFOd3qBTV02FWm3R8130_assertion {
  miriam-gene:3625 a ncit:C16612 .
  
  lld:C1861553 a ncit:C7057 .
  
  dgn-gda:DGNfbed35605cf83659346d249b19690632 sio:SIO_000628 miriam-gene:3625, lld:C1861553;
    a sio:SIO_001121 .
}

dgn-np:NP806980.RAZROaW5vub7d2AafnsR0Bldlx0haFOd3qBTV02FWm3R8130_provenance {
  dgn-np:NP806980.RAZROaW5vub7d2AafnsR0Bldlx0haFOd3qBTV02FWm3R8130_assertion dcterms:description
      "[To investigate whether mutation of a gene in proximity to the chromosome 2 breakpoint underlies the SHFLD, we sought independent evidence of mutations in GLI2, INHBB and two other genes (RALB and FLJ14816) in 44 unrelated patients with SHFM, SHFLD or isolated long bone deficiency.]. 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:17569090;
    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:NP806980.RAZROaW5vub7d2AafnsR0Bldlx0haFOd3qBTV02FWm3R8130_publicationInfo {
  this: dcterms:created "2014-10-02T12:40:15+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" .
}