@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k> .
@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:NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k130_head {
  this: np:hasAssertion dgn-np:NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k130_assertion;
    np:hasProvenance dgn-np:NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k130_provenance;
    np:hasPublicationInfo dgn-np:NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k130_assertion a np:Assertion .
  
  dgn-np:NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k130_provenance a np:Provenance .
  
  dgn-np:NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k130_assertion {
  miriam-gene:2332 a ncit:C16612 .
  
  lld:C0016667 a ncit:C7057 .
  
  dgn-gda:DGN5e6de8601b6341805138d8b470d25a7d sio:SIO_000628 miriam-gene:2332, lld:C0016667;
    a sio:SIO_001121 .
}

dgn-np:NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k130_provenance {
  dgn-np:NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k130_assertion dcterms:description
      "[In order to characterize the dynamics of CGG repeat instability at the fragile X syndrome locus (FMR1 gene), we have used small pool PCR to estimate the mutation rate within germline (sperm) and somatic tissue (leukocytes) of two normal males, one carrying the most common 29 CGG repeats allele, the other carrying a borderline normal-premutated allele of 55 repeats.]. 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:8776598;
    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:NP1356214.RARbaBeWVsV4FF_GSeAGIEcuVt7oMsF_QcZEkHwayLK2k130_publicationInfo {
  this: dcterms:created "2016-05-13T12:52:01+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" .
}