@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP544093.RAT4ULklunHUNNLDr3gj1URkdHwUvNTwzd-IjUaozeuvc> .
@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/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@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/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v4.0.0/void/> .

dgn-np:NP544093.RAT4ULklunHUNNLDr3gj1URkdHwUvNTwzd-IjUaozeuvc130_head {
  this: np:hasAssertion dgn-np:NP544093.RAT4ULklunHUNNLDr3gj1URkdHwUvNTwzd-IjUaozeuvc130_assertion;
    np:hasProvenance dgn-np:NP544093.RAT4ULklunHUNNLDr3gj1URkdHwUvNTwzd-IjUaozeuvc130_provenance;
    np:hasPublicationInfo dgn-np:NP544093.RAT4ULklunHUNNLDr3gj1URkdHwUvNTwzd-IjUaozeuvc130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP544093.RAT4ULklunHUNNLDr3gj1URkdHwUvNTwzd-IjUaozeuvc130_assertion a np:Assertion .
  
  dgn-np:NP544093.RAT4ULklunHUNNLDr3gj1URkdHwUvNTwzd-IjUaozeuvc130_provenance a np:Provenance .
  
  dgn-np:NP544093.RAT4ULklunHUNNLDr3gj1URkdHwUvNTwzd-IjUaozeuvc130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP544093.RAT4ULklunHUNNLDr3gj1URkdHwUvNTwzd-IjUaozeuvc130_assertion {
  miriam-gene:4524 a ncit:C16612 .
  
  lld:C0013080 a ncit:C7057 .
  
  dgn-gda:DGNcea033507149d062623670a97c38044a sio:SIO_000628 miriam-gene:4524, lld:C0013080;
    a sio:SIO_001121 .
}

dgn-np:NP544093.RAT4ULklunHUNNLDr3gj1URkdHwUvNTwzd-IjUaozeuvc130_provenance {
  dgn-np:NP544093.RAT4ULklunHUNNLDr3gj1URkdHwUvNTwzd-IjUaozeuvc130_assertion dcterms:description
      "[They found that the mother, who also had not supplemented her folic acid intake, had a secondarily altered folate status with an increased homocysteine level, suggesting that the homozygous TT mutation in the MTHFR gene in both mother and her child had contributed to the presentation of DS and a neural tube defect.]. 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:16602006;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP544093.RAT4ULklunHUNNLDr3gj1URkdHwUvNTwzd-IjUaozeuvc130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:51+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:disgenetv3.0rdf;
    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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}