@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP983985.RA1BFmtGzrLny5m3WXSQnw851lum2Qxyzukd1DVPKR3rY> .
@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:NP983985.RA1BFmtGzrLny5m3WXSQnw851lum2Qxyzukd1DVPKR3rY130_head {
   this: np:hasAssertion dgn-np:NP983985.RA1BFmtGzrLny5m3WXSQnw851lum2Qxyzukd1DVPKR3rY130_assertion ;
    np:hasProvenance dgn-np:NP983985.RA1BFmtGzrLny5m3WXSQnw851lum2Qxyzukd1DVPKR3rY130_provenance ;
    np:hasPublicationInfo dgn-np:NP983985.RA1BFmtGzrLny5m3WXSQnw851lum2Qxyzukd1DVPKR3rY130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP983985.RA1BFmtGzrLny5m3WXSQnw851lum2Qxyzukd1DVPKR3rY130_assertion a np:Assertion .
  dgn-np:NP983985.RA1BFmtGzrLny5m3WXSQnw851lum2Qxyzukd1DVPKR3rY130_provenance a np:Provenance .
  dgn-np:NP983985.RA1BFmtGzrLny5m3WXSQnw851lum2Qxyzukd1DVPKR3rY130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP983985.RA1BFmtGzrLny5m3WXSQnw851lum2Qxyzukd1DVPKR3rY130_assertion {
   miriam-gene:284119 a ncit:C16612 .
  lld:C0023473 a ncit:C7057 .
  dgn-gda:DGN2ec0fca5a9b94aa21910be9bb1eef50c sio:SIO_000628 miriam-gene:284119 , lld:C0023473 ;
    a sio:SIO_001121 .
}
dgn-np:NP983985.RA1BFmtGzrLny5m3WXSQnw851lum2Qxyzukd1DVPKR3rY130_provenance {
   dgn-np:NP983985.RA1BFmtGzrLny5m3WXSQnw851lum2Qxyzukd1DVPKR3rY130_assertion dcterms:description "[We report novel PTRF mutations and detailed phenotypes of two male and three female patients with CGL4 belonging to two pedigrees of Mexican origin (CGL7100 and CGL178) and one pedigree of Turkish origin (CGL180).]. 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:20684003 ;
    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:NP983985.RA1BFmtGzrLny5m3WXSQnw851lum2Qxyzukd1DVPKR3rY130_publicationInfo {
   this: dcterms:created "2015-08-25T14:47:41+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" .
}