@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co> .
@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:NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_head {
  this: np:hasAssertion dgn-np:NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_assertion;
    np:hasProvenance dgn-np:NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_provenance;
    np:hasPublicationInfo dgn-np:NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_assertion a np:Assertion .
  
  dgn-np:NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_provenance a np:Provenance .
  
  dgn-np:NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_assertion {
  miriam-gene:10269 a ncit:C16612 .
  
  lld:C0917990 a ncit:C7057 .
  
  dgn-gda:DGNbbbd9aa71f5c6c94c52b522259043f83 sio:SIO_000628 miriam-gene:10269, lld:C0917990;
    a sio:SIO_001121 .
}

dgn-np:NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_provenance {
  dgn-np:NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_assertion dcterms:description
      "[We now show compound heterozygous mutations, Phe361fsX379 and Trp340Arg, in the zinc metalloproteinase (ZMPSTE24) gene in one of the four patients who had severe MAD associated with progeroid appearance and generalized lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_curated;
    sio:SIO_000772 miriam-pubmed:12913070;
    prov:wasDerivedFrom dgn-void:ctd_human-20130708;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:ctd_human-20130708 pav:importedOn "2013-07-24"^^xsd:date .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
}

dgn-np:NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_publicationInfo {
  this: dcterms:created "2014-10-02T12:32:14+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" .
}