@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA> .
@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:NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA130_head {
  this: np:hasAssertion dgn-np:NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA130_assertion ;
    np:hasProvenance dgn-np:NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA130_provenance ;
    np:hasPublicationInfo dgn-np:NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA130_assertion a np:Assertion .
  dgn-np:NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA130_provenance a np:Provenance .
  dgn-np:NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA130_assertion {
  miriam-gene:2645 a ncit:C16612 .
  lld:C1841962 a ncit:C7057 .
  dgn-gda:DGN31a23e6c84cc69765a01fd80ab4c40a9 sio:SIO_000628 miriam-gene:2645 , lld:C1841962 ;
    a sio:SIO_001121 .
}
dgn-np:NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA130_provenance {
  dgn-np:NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA130_assertion dcterms:description "[In this study 100 diabetic Jordanian patients with MODY2 phenotype and 150 Normal control subjects were screened for the presence of GCK gene mutations including the missense mutations at position Thr228Ala in exon 7, Gly299Arg in exon 8 and nonsense mutation Ser383Ter in exon 9, utilizing polymerase chain reaction with restriction fragment length polymorphism (PCR-RFLP) analysis.]. 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:20458967 ;
    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:NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:44+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" .
}