@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP43930.RATxcM0zqjMHEc8cbgE-rSUxK4cyOEHQYA4uduuPLUCik> .
@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:NP43930.RATxcM0zqjMHEc8cbgE-rSUxK4cyOEHQYA4uduuPLUCik130_head {
  this: np:hasAssertion dgn-np:NP43930.RATxcM0zqjMHEc8cbgE-rSUxK4cyOEHQYA4uduuPLUCik130_assertion;
    np:hasProvenance dgn-np:NP43930.RATxcM0zqjMHEc8cbgE-rSUxK4cyOEHQYA4uduuPLUCik130_provenance;
    np:hasPublicationInfo dgn-np:NP43930.RATxcM0zqjMHEc8cbgE-rSUxK4cyOEHQYA4uduuPLUCik130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP43930.RATxcM0zqjMHEc8cbgE-rSUxK4cyOEHQYA4uduuPLUCik130_assertion a np:Assertion .
  
  dgn-np:NP43930.RATxcM0zqjMHEc8cbgE-rSUxK4cyOEHQYA4uduuPLUCik130_provenance a np:Provenance .
  
  dgn-np:NP43930.RATxcM0zqjMHEc8cbgE-rSUxK4cyOEHQYA4uduuPLUCik130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP43930.RATxcM0zqjMHEc8cbgE-rSUxK4cyOEHQYA4uduuPLUCik130_assertion {
  miriam-gene:2332 a ncit:C16612 .
  
  lld:C0004936 a ncit:C7057 .
  
  dgn-gda:DGNba8ab9a76d3e47bf732bac74b131e5bb sio:SIO_000628 miriam-gene:2332, lld:C0004936;
    a sio:SIO_001122 .
}

dgn-np:NP43930.RATxcM0zqjMHEc8cbgE-rSUxK4cyOEHQYA4uduuPLUCik130_provenance {
  dgn-np:NP43930.RATxcM0zqjMHEc8cbgE-rSUxK4cyOEHQYA4uduuPLUCik130_assertion dcterms:description
      "[Contrary to expectation, given the normal frequency of grey zone alleles, no premutation (PM) or full mutation (FM) allele was detected in either sample, with only 15 fragile X families diagnosed through routine clinical admissions registered in Tasmania up to 2002. An explanation of this discrepancy could be that the C19th founders of Tasmania carried few PM or FM alleles. The eight to ten generations since white settlement of Tasmania has been insufficient time for susceptible grey zone alleles to evolve into the larger expansions.]. 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:15617547;
    prov:wasDerivedFrom dgn-void:gad-20130706;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  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 .
}

dgn-np:NP43930.RATxcM0zqjMHEc8cbgE-rSUxK4cyOEHQYA4uduuPLUCik130_publicationInfo {
  this: dcterms:created "2014-10-02T12:32:20+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" .
}