@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1009586.RAF_YBvugl8addgaZHCOveJtQFu05LUzbrbomVbFDfM1A> .
@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/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@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/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v3.0.0/void/> .
dgn-np:NP1009586.RAF_YBvugl8addgaZHCOveJtQFu05LUzbrbomVbFDfM1A130_head {
   this: np:hasAssertion dgn-np:NP1009586.RAF_YBvugl8addgaZHCOveJtQFu05LUzbrbomVbFDfM1A130_assertion ;
    np:hasProvenance dgn-np:NP1009586.RAF_YBvugl8addgaZHCOveJtQFu05LUzbrbomVbFDfM1A130_provenance ;
    np:hasPublicationInfo dgn-np:NP1009586.RAF_YBvugl8addgaZHCOveJtQFu05LUzbrbomVbFDfM1A130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP1009586.RAF_YBvugl8addgaZHCOveJtQFu05LUzbrbomVbFDfM1A130_assertion a np:Assertion .
  dgn-np:NP1009586.RAF_YBvugl8addgaZHCOveJtQFu05LUzbrbomVbFDfM1A130_provenance a np:Provenance .
  dgn-np:NP1009586.RAF_YBvugl8addgaZHCOveJtQFu05LUzbrbomVbFDfM1A130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP1009586.RAF_YBvugl8addgaZHCOveJtQFu05LUzbrbomVbFDfM1A130_assertion {
   miriam-gene:728226 a ncit:C16612 .
  lld:C0033300 a ncit:C7057 .
  dgn-gda:DGN4d30f1340dc0fb29420bce6cc9aca41b sio:SIO_000628 miriam-gene:728226 , lld:C0033300 ;
    a sio:SIO_001121 .
}
dgn-np:NP1009586.RAF_YBvugl8addgaZHCOveJtQFu05LUzbrbomVbFDfM1A130_provenance {
   dgn-np:NP1009586.RAF_YBvugl8addgaZHCOveJtQFu05LUzbrbomVbFDfM1A130_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 &gt; 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-20150227 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP1009586.RAF_YBvugl8addgaZHCOveJtQFu05LUzbrbomVbFDfM1A130_publicationInfo {
   this: dcterms:created "2015-08-25T14:48:06+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:disgenetv3.0rdf ;
    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 "v3.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}