@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP897035.RAq_wpb2ycAMABf4DoaqLxlWDsfNg2mwOHQ2ppMQM92tU> .
@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:NP897035.RAq_wpb2ycAMABf4DoaqLxlWDsfNg2mwOHQ2ppMQM92tU130_head {
  this: np:hasAssertion dgn-np:NP897035.RAq_wpb2ycAMABf4DoaqLxlWDsfNg2mwOHQ2ppMQM92tU130_assertion;
    np:hasProvenance dgn-np:NP897035.RAq_wpb2ycAMABf4DoaqLxlWDsfNg2mwOHQ2ppMQM92tU130_provenance;
    np:hasPublicationInfo dgn-np:NP897035.RAq_wpb2ycAMABf4DoaqLxlWDsfNg2mwOHQ2ppMQM92tU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP897035.RAq_wpb2ycAMABf4DoaqLxlWDsfNg2mwOHQ2ppMQM92tU130_assertion a np:Assertion .
  
  dgn-np:NP897035.RAq_wpb2ycAMABf4DoaqLxlWDsfNg2mwOHQ2ppMQM92tU130_provenance a np:Provenance .
  
  dgn-np:NP897035.RAq_wpb2ycAMABf4DoaqLxlWDsfNg2mwOHQ2ppMQM92tU130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP897035.RAq_wpb2ycAMABf4DoaqLxlWDsfNg2mwOHQ2ppMQM92tU130_assertion {
  miriam-gene:6505 a ncit:C16612 .
  
  lld:C0025362 a ncit:C7057 .
  
  dgn-gda:DGNb8a5b7b033e9215672ea267202cefc99 sio:SIO_000628 miriam-gene:6505, lld:C0025362;
    a sio:SIO_001121 .
}

dgn-np:NP897035.RAq_wpb2ycAMABf4DoaqLxlWDsfNg2mwOHQ2ppMQM92tU130_provenance {
  dgn-np:NP897035.RAq_wpb2ycAMABf4DoaqLxlWDsfNg2mwOHQ2ppMQM92tU130_assertion dcterms:description
      "[Here we report that SLC1A1 mutations leading to substitution of arginine to tryptophan at position 445 (R445W) and deletion of isoleucine at position 395 (I395del) cause human dicarboxylic aminoaciduria, an autosomal recessive disorder of urinary glutamate and aspartate transport that can be associated with mental retardation.]. 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:21123949;
    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:NP897035.RAq_wpb2ycAMABf4DoaqLxlWDsfNg2mwOHQ2ppMQM92tU130_publicationInfo {
  this: dcterms:created "2014-10-02T12:41:11+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" .
}