@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k> .
@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:NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k130_head {
  this: np:hasAssertion dgn-np:NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k130_assertion;
    np:hasProvenance dgn-np:NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k130_provenance;
    np:hasPublicationInfo dgn-np:NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k130_assertion a np:Assertion .
  
  dgn-np:NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k130_provenance a np:Provenance .
  
  dgn-np:NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k130_assertion {
  miriam-gene:2477 a ncit:C16612 .
  
  lld:C0266617 a ncit:C7057 .
  
  dgn-gda:DGN47be82027796da851c4d90e53c084194 sio:SIO_000628 miriam-gene:2477, lld:C0266617;
    a sio:SIO_001121 .
}

dgn-np:NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k130_provenance {
  dgn-np:NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k130_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-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP856409.RAQAR2U9SxzA5PMqwAyiYGAKLoVXcXf3oPreDBHNo4W_k130_publicationInfo {
  this: dcterms:created "2014-10-02T12:40:43+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" .
}