@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0> .
@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:NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0130_head {
  this: np:hasAssertion dgn-np:NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0130_assertion;
    np:hasProvenance dgn-np:NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0130_provenance;
    np:hasPublicationInfo dgn-np:NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0130_assertion a np:Assertion .
  
  dgn-np:NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0130_provenance a np:Provenance .
  
  dgn-np:NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0130_assertion {
  miriam-gene:212 a ncit:C16612 .
  
  lld:C0221018 a ncit:C7057 .
  
  dgn-gda:DGN9f62328911e2a5c76fa61cac13fe7af8 sio:SIO_000628 miriam-gene:212, lld:C0221018;
    a sio:SIO_001121 .
}

dgn-np:NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0130_provenance {
  dgn-np:NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0130_assertion dcterms:description
      "[To determine the nature of the mutation in the ALAS2 gene causing XLSA in Cooley's original family, genomic DNAs were isolated from two affected hemizygotes, and each ALAS2 exon was PCR amplified and sequenced.]. 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:7949148;
    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:NP194119.RAQ7hGm6i4wTlVA-8XenoCczu2Ji8__n09r-yYLBY3re0130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:47+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" .
}