@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM> .
@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 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:NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_head {
  this: np:hasAssertion dgn-np:NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_assertion;
    np:hasProvenance dgn-np:NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_provenance;
    np:hasPublicationInfo dgn-np:NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_assertion a np:Assertion .
  
  dgn-np:NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_provenance a np:Provenance .
  
  dgn-np:NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_assertion {
  miriam-gene:10269 a ncit:C16612 .
  
  lld:C1837756 a ncit:C7057 .
  
  dgn-gda:DGN409bcd4e2795c2bc44ca9532502718da sio:SIO_000628 miriam-gene:10269, lld:C1837756;
    a sio:SIO_001122 .
}

dgn-np:NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_provenance {
  dgn-np:NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_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:uniprot-20130724;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  
  dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}

dgn-np:NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_publicationInfo {
  this: dcterms:created "2014-10-02T12:32:01+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" .
}