@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U> .
@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:NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_head {
  this: np:hasAssertion dgn-np:NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_assertion ;
    np:hasProvenance dgn-np:NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_provenance ;
    np:hasPublicationInfo dgn-np:NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_publicationInfo ;
    a np:Nanopublication .
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  dgn-np:NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_provenance a np:Provenance .
  dgn-np:NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_assertion {
  miriam-gene:8195 a ncit:C16612 .
  lld:C0269209 a ncit:C7057 .
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    a sio:SIO_001121 .
}
dgn-np:NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_provenance {
  dgn-np:NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_assertion dcterms:description "[We report 7 patients diagnosed in the neonatal period with hydrometrocolpos and polydactyly who carry mutations in various BBS genes (BBS6, BBS2, BBS10, BBS8 and BBS12), stressing the importance of wide BBS genotyping in patients with this clinical association for diagnosis, prognosis and genetic counselling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
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    prov:wasDerivedFrom dgn-void:befree-20140225 ;
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    rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en ;
    rdfs:label "DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_publicationInfo {
  this: dcterms:created "2014-10-02T12:36:28+02:00"^^xsd:dateTime ;
    dcterms:rights <http://opendatacommons.org/licenses/odbl/1.0/> ;
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