@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP221635.RAeILQR6HFoSNHDQ8t7CzutC4op5dCrMltwnx1Dj9X_f8> .
@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:NP221635.RAeILQR6HFoSNHDQ8t7CzutC4op5dCrMltwnx1Dj9X_f8130_head {
  this: np:hasAssertion dgn-np:NP221635.RAeILQR6HFoSNHDQ8t7CzutC4op5dCrMltwnx1Dj9X_f8130_assertion;
    np:hasProvenance dgn-np:NP221635.RAeILQR6HFoSNHDQ8t7CzutC4op5dCrMltwnx1Dj9X_f8130_provenance;
    np:hasPublicationInfo dgn-np:NP221635.RAeILQR6HFoSNHDQ8t7CzutC4op5dCrMltwnx1Dj9X_f8130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP221635.RAeILQR6HFoSNHDQ8t7CzutC4op5dCrMltwnx1Dj9X_f8130_assertion a np:Assertion .
  
  dgn-np:NP221635.RAeILQR6HFoSNHDQ8t7CzutC4op5dCrMltwnx1Dj9X_f8130_provenance a np:Provenance .
  
  dgn-np:NP221635.RAeILQR6HFoSNHDQ8t7CzutC4op5dCrMltwnx1Dj9X_f8130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP221635.RAeILQR6HFoSNHDQ8t7CzutC4op5dCrMltwnx1Dj9X_f8130_assertion {
  miriam-gene:92344 a ncit:C16612 .
  
  lld:C0432255 a ncit:C7057 .
  
  dgn-gda:DGN3694febe912647c2b62efc53fe20390d sio:SIO_000628 miriam-gene:92344, lld:C0432255;
    a sio:SIO_001121 .
}

dgn-np:NP221635.RAeILQR6HFoSNHDQ8t7CzutC4op5dCrMltwnx1Dj9X_f8130_provenance {
  dgn-np:NP221635.RAeILQR6HFoSNHDQ8t7CzutC4op5dCrMltwnx1Dj9X_f8130_assertion dcterms:description
      "[Although the disease resulting from recessive mutations in that gene has been recently designated ARCL2B, some clinical features, such as prognathism, elongated and lax face, osteopenia and limitation of skin wrinkling to the dorsum of hands and feet, in the patients reported here as well as in others reported with PYCR1 mutations, are generally more common in geroderma osteodysplasticum resulting from recessive GORAB mutations.]. 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:21204221;
    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:NP221635.RAeILQR6HFoSNHDQ8t7CzutC4op5dCrMltwnx1Dj9X_f8130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:03+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" .
}