@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8> .
@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:NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_head {
  this: np:hasAssertion dgn-np:NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_assertion;
    np:hasProvenance dgn-np:NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_provenance;
    np:hasPublicationInfo dgn-np:NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_assertion a np:Assertion .
  
  dgn-np:NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_provenance a np:Provenance .
  
  dgn-np:NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_assertion {
  miriam-gene:2477 a ncit:C16612 .
  
  lld:C0016667 a ncit:C7057 .
  
  dgn-gda:DGNbef59b2feed594bad043ec69c734dc5e sio:SIO_000628 miriam-gene:2477, lld:C0016667;
    a sio:SIO_001121 .
}

dgn-np:NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_provenance {
  dgn-np:NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_assertion dcterms:description
      "[Expansion of an unstable (CGG)n repeat to over 200 triplets within the promoter region of the human FMR1 gene leads to extensive local methylation and transcription silencing, resulting in the loss of FMRP protein and the development of the clinical features of fragile X syndrome.]. 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:12659659;
    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:NP388681.RA9J8Rim5n1ZZU8ytMhygAIf3oNfDuD6h7i82s2JgvQD8130_publicationInfo {
  this: dcterms:created "2016-05-13T12:44:41+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" .
}