@prefix orcid: <http://orcid.org/> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ> .
@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:NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_head {
   this: np:hasAssertion dgn-np:NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_assertion ;
    np:hasProvenance dgn-np:NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_provenance ;
    np:hasPublicationInfo dgn-np:NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_assertion a np:Assertion .
  dgn-np:NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_provenance a np:Provenance .
  dgn-np:NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_assertion {
   miriam-gene:79087 a ncit:C16612 .
  lld:C2931001 a ncit:C7057 .
  dgn-gda:DGNeb583fc847be953d1aebdffc4e5ae36d sio:SIO_000628 miriam-gene:79087 , lld:C2931001 ;
    a sio:SIO_001122 .
}
dgn-np:NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_provenance {
   dgn-np:NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_assertion dcterms:description "[As the pathological phenotype of the fibroblasts of the patient was largely normalized upon transduction with the wild type gene, we demonstrate that the F142V substitution is the underlying cause of this new CDG, which we suggest be called CDG Ig.]. 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:11983712 ;
    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:NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_publicationInfo {
   this: dcterms:created "2014-10-02T12:31:58+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 orcid:0000-0001-5999-6269 , orcid:0000-0002-7534-7661 , orcid:0000-0002-9383-528X , orcid:0000-0003-0169-8159 , orcid:0000-0003-1244-7654 ;
    pav:createdBy orcid:0000-0003-0169-8159 ;
    pav:version "v2.1.0.0" .
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}