@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP683470.RA8yhmEGtcIfBUKVkHqbeX604JXt5B2LLcfzch_-aONTQ> .
@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:NP683470.RA8yhmEGtcIfBUKVkHqbeX604JXt5B2LLcfzch_-aONTQ130_head {
  this: np:hasAssertion dgn-np:NP683470.RA8yhmEGtcIfBUKVkHqbeX604JXt5B2LLcfzch_-aONTQ130_assertion;
    np:hasProvenance dgn-np:NP683470.RA8yhmEGtcIfBUKVkHqbeX604JXt5B2LLcfzch_-aONTQ130_provenance;
    np:hasPublicationInfo dgn-np:NP683470.RA8yhmEGtcIfBUKVkHqbeX604JXt5B2LLcfzch_-aONTQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP683470.RA8yhmEGtcIfBUKVkHqbeX604JXt5B2LLcfzch_-aONTQ130_assertion a np:Assertion .
  
  dgn-np:NP683470.RA8yhmEGtcIfBUKVkHqbeX604JXt5B2LLcfzch_-aONTQ130_provenance a np:Provenance .
  
  dgn-np:NP683470.RA8yhmEGtcIfBUKVkHqbeX604JXt5B2LLcfzch_-aONTQ130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP683470.RA8yhmEGtcIfBUKVkHqbeX604JXt5B2LLcfzch_-aONTQ130_assertion {
  miriam-gene:6046 a ncit:C16612 .
  
  lld:C0016952 a ncit:C7057 .
  
  dgn-gda:DGNa72d32ea52f642845a1d880f5c8f449e sio:SIO_000628 miriam-gene:6046, lld:C0016952;
    a sio:SIO_001121 .
}

dgn-np:NP683470.RA8yhmEGtcIfBUKVkHqbeX604JXt5B2LLcfzch_-aONTQ130_provenance {
  dgn-np:NP683470.RA8yhmEGtcIfBUKVkHqbeX604JXt5B2LLcfzch_-aONTQ130_assertion dcterms:description
      "[Possession of GALT polymorphisms previously linked with low GALT activity, including the Q188R mutation of classic galactosemia or N314D mutation of the Duarte galactosemia variant, was associated with significantly higher FSH, even in the heterozygous state.]. 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:7962282;
    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:NP683470.RA8yhmEGtcIfBUKVkHqbeX604JXt5B2LLcfzch_-aONTQ130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:55+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" .
}