@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP554496.RAMSQ2bTUUhoffAn0xaZIOOsS9qVB5ulUAKk7c8oXTfWM> .
@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:NP554496.RAMSQ2bTUUhoffAn0xaZIOOsS9qVB5ulUAKk7c8oXTfWM130_head {
  this: np:hasAssertion dgn-np:NP554496.RAMSQ2bTUUhoffAn0xaZIOOsS9qVB5ulUAKk7c8oXTfWM130_assertion;
    np:hasProvenance dgn-np:NP554496.RAMSQ2bTUUhoffAn0xaZIOOsS9qVB5ulUAKk7c8oXTfWM130_provenance;
    np:hasPublicationInfo dgn-np:NP554496.RAMSQ2bTUUhoffAn0xaZIOOsS9qVB5ulUAKk7c8oXTfWM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP554496.RAMSQ2bTUUhoffAn0xaZIOOsS9qVB5ulUAKk7c8oXTfWM130_assertion a np:Assertion .
  
  dgn-np:NP554496.RAMSQ2bTUUhoffAn0xaZIOOsS9qVB5ulUAKk7c8oXTfWM130_provenance a np:Provenance .
  
  dgn-np:NP554496.RAMSQ2bTUUhoffAn0xaZIOOsS9qVB5ulUAKk7c8oXTfWM130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP554496.RAMSQ2bTUUhoffAn0xaZIOOsS9qVB5ulUAKk7c8oXTfWM130_assertion {
  miriam-gene:2332 a ncit:C16612 .
  
  lld:C0266617 a ncit:C7057 .
  
  dgn-gda:DGN183baf1e471dcec51e434a72a1c74ebd sio:SIO_000628 miriam-gene:2332, lld:C0266617;
    a sio:SIO_001121 .
}

dgn-np:NP554496.RAMSQ2bTUUhoffAn0xaZIOOsS9qVB5ulUAKk7c8oXTfWM130_provenance {
  dgn-np:NP554496.RAMSQ2bTUUhoffAn0xaZIOOsS9qVB5ulUAKk7c8oXTfWM130_assertion dcterms:description
      "[We first screened 153 patients with MR and facial dysmorphism associated with malformations, or growth anomalies, or familial history, with cytogenetically normal chromosomes, and the absence of FRAXA mutation and subtelomeric rearrangements.]. 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:16773131;
    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:NP554496.RAMSQ2bTUUhoffAn0xaZIOOsS9qVB5ulUAKk7c8oXTfWM130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:56+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" .
}