@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0> .
@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 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/v4.0.0/void/> .
dgn-np:NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_head {
   this: np:hasAssertion dgn-np:NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_assertion ;
    np:hasProvenance dgn-np:NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_provenance ;
    np:hasPublicationInfo dgn-np:NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_assertion a np:Assertion .
  dgn-np:NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_provenance a np:Provenance .
  dgn-np:NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_assertion {
   miriam-gene:1991 a ncit:C16612 .
  lld:C0221023 a ncit:C7057 .
  dgn-gda:DGN4081f3d3fc7b27caf704eb9ce063f813 sio:SIO_000628 miriam-gene:1991 , lld:C0221023 ;
    a sio:SIO_001122 .
}
dgn-np:NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_provenance {
   dgn-np:NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_assertion dcterms:description "[By phenotypic analysis of affected relatives and carriers of the same ELA2 mutations, we showed that the expression of neutropenia in CN and SCN may be either homogeneous or variable according to the type of mutations, suggesting different pathogenetic mechanisms.]. 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:14962902 ;
    prov:wasDerivedFrom dgn-void:uniprot-2016 ;
    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-2016 pav:importedOn "2016-01-25"^^xsd:date .
}
dgn-np:NP3256.RAskkViLNIqje0v5cQizkrgHeqKLQwwk47A2nLgqbIzn0130_publicationInfo {
   this: dcterms:created "2016-05-13T12:41:51+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 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 "v4.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}