@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP52262.RApHmk2uGqEoB2Ih3Tgg8HEYmlih113802ra2X_xXZJaw> .
@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:NP52262.RApHmk2uGqEoB2Ih3Tgg8HEYmlih113802ra2X_xXZJaw130_head {
  this: np:hasAssertion dgn-np:NP52262.RApHmk2uGqEoB2Ih3Tgg8HEYmlih113802ra2X_xXZJaw130_assertion;
    np:hasProvenance dgn-np:NP52262.RApHmk2uGqEoB2Ih3Tgg8HEYmlih113802ra2X_xXZJaw130_provenance;
    np:hasPublicationInfo dgn-np:NP52262.RApHmk2uGqEoB2Ih3Tgg8HEYmlih113802ra2X_xXZJaw130_publicationInfo;
    a np:Nanopublication .
  
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  dgn-np:NP52262.RApHmk2uGqEoB2Ih3Tgg8HEYmlih113802ra2X_xXZJaw130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP52262.RApHmk2uGqEoB2Ih3Tgg8HEYmlih113802ra2X_xXZJaw130_assertion {
  miriam-gene:6573 a ncit:C16612 .
  
  lld:C0013080 a ncit:C7057 .
  
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dgn-np:NP52262.RApHmk2uGqEoB2Ih3Tgg8HEYmlih113802ra2X_xXZJaw130_provenance {
  dgn-np:NP52262.RApHmk2uGqEoB2Ih3Tgg8HEYmlih113802ra2X_xXZJaw130_assertion dcterms:description
      "[The purpose of the present study was to analyse these findings among the French population and to investigate whether common polymorphisms in genes of the folate and homocysteine pathway, including the MTHFR 677C > T, MTHFR 1298A > C, the methionine synthase (MTR) 2756A > G, the cystathionine beta-synthase (CBS) 844Ins68 and the reduced folate carrier (RFC-1) 80G > A polymorphisms, contribute to the risk of trisomy 21.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_literature;
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    prov:wasDerivedFrom dgn-void:gad-20130706;
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  dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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 .
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dgn-np:NP52262.RApHmk2uGqEoB2Ih3Tgg8HEYmlih113802ra2X_xXZJaw130_publicationInfo {
  this: dcterms:created "2014-10-02T12:32:24+02:00"^^xsd:dateTime;
    dcterms:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
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