@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP680645.RAolqjBkCVKrmaRH7mM0MwBfGT_b3f8Fu5pqfeMEKcTL4> .
@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:NP680645.RAolqjBkCVKrmaRH7mM0MwBfGT_b3f8Fu5pqfeMEKcTL4130_head {
  this: np:hasAssertion dgn-np:NP680645.RAolqjBkCVKrmaRH7mM0MwBfGT_b3f8Fu5pqfeMEKcTL4130_assertion;
    np:hasProvenance dgn-np:NP680645.RAolqjBkCVKrmaRH7mM0MwBfGT_b3f8Fu5pqfeMEKcTL4130_provenance;
    np:hasPublicationInfo dgn-np:NP680645.RAolqjBkCVKrmaRH7mM0MwBfGT_b3f8Fu5pqfeMEKcTL4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP680645.RAolqjBkCVKrmaRH7mM0MwBfGT_b3f8Fu5pqfeMEKcTL4130_assertion a np:Assertion .
  
  dgn-np:NP680645.RAolqjBkCVKrmaRH7mM0MwBfGT_b3f8Fu5pqfeMEKcTL4130_provenance a np:Provenance .
  
  dgn-np:NP680645.RAolqjBkCVKrmaRH7mM0MwBfGT_b3f8Fu5pqfeMEKcTL4130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP680645.RAolqjBkCVKrmaRH7mM0MwBfGT_b3f8Fu5pqfeMEKcTL4130_assertion {
  miriam-gene:653590 a ncit:C16612 .
  
  lld:C0033300 a ncit:C7057 .
  
  dgn-gda:DGN7f75eaa5051312a5ef9eff0af38d1a62 sio:SIO_000628 miriam-gene:653590, lld:C0033300;
    a sio:SIO_001121 .
}

dgn-np:NP680645.RAolqjBkCVKrmaRH7mM0MwBfGT_b3f8Fu5pqfeMEKcTL4130_provenance {
  dgn-np:NP680645.RAolqjBkCVKrmaRH7mM0MwBfGT_b3f8Fu5pqfeMEKcTL4130_assertion dcterms:description
      "[Sequencing of LMNA, located in this interval and previously implicated in several other heritable disorders, revealed that 18 out of 20 classical cases of HGPS harboured an identical de novo (that is, newly arisen and not inherited) single-base substitution, G608G(GGC > GGT), within exon 11.]. 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:12714972;
    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:NP680645.RAolqjBkCVKrmaRH7mM0MwBfGT_b3f8Fu5pqfeMEKcTL4130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:50+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" .
}