@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI> .
@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:NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI130_head {
  this: np:hasAssertion dgn-np:NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI130_assertion ;
    np:hasProvenance dgn-np:NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI130_provenance ;
    np:hasPublicationInfo dgn-np:NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI130_assertion a np:Assertion .
  dgn-np:NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI130_provenance a np:Provenance .
  dgn-np:NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI130_assertion {
  miriam-gene:101929889 a ncit:C16612 .
  lld:C0043194 a ncit:C7057 .
  dgn-gda:DGN7398a7470731e0d938f59020f6475b9c sio:SIO_000628 miriam-gene:101929889 , lld:C0043194 ;
    a sio:SIO_001121 .
}
dgn-np:NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI130_provenance {
  dgn-np:NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI130_assertion dcterms:description "[Two explanations are plausible for the occurrence of the WAS in our patients: the WAS in the patients is attributable to an autosomal gene mutation which may regulate the sialophorin gene expression through the WAS gene, or, alternatively, the condition in this family is an autosomal recessive disorder separated etiologically from the X-linked WAS.]. 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:8546147 ;
    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:NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:31+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" .
}