@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP861261.RA4h-Ehi71m2yFoTz_ShkEjM0DbQCaXIj23-FCGZ1k9Vw> .
@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:NP861261.RA4h-Ehi71m2yFoTz_ShkEjM0DbQCaXIj23-FCGZ1k9Vw130_head {
  this: np:hasAssertion dgn-np:NP861261.RA4h-Ehi71m2yFoTz_ShkEjM0DbQCaXIj23-FCGZ1k9Vw130_assertion;
    np:hasProvenance dgn-np:NP861261.RA4h-Ehi71m2yFoTz_ShkEjM0DbQCaXIj23-FCGZ1k9Vw130_provenance;
    np:hasPublicationInfo dgn-np:NP861261.RA4h-Ehi71m2yFoTz_ShkEjM0DbQCaXIj23-FCGZ1k9Vw130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP861261.RA4h-Ehi71m2yFoTz_ShkEjM0DbQCaXIj23-FCGZ1k9Vw130_assertion a np:Assertion .
  
  dgn-np:NP861261.RA4h-Ehi71m2yFoTz_ShkEjM0DbQCaXIj23-FCGZ1k9Vw130_provenance a np:Provenance .
  
  dgn-np:NP861261.RA4h-Ehi71m2yFoTz_ShkEjM0DbQCaXIj23-FCGZ1k9Vw130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP861261.RA4h-Ehi71m2yFoTz_ShkEjM0DbQCaXIj23-FCGZ1k9Vw130_assertion {
  miriam-gene:1421 a ncit:C16612 .
  
  lld:C0086543 a ncit:C7057 .
  
  dgn-gda:DGN8b21c38ad26df8e3baa18a72ea2832d9 sio:SIO_000628 miriam-gene:1421, lld:C0086543;
    a sio:SIO_001121 .
}

dgn-np:NP861261.RA4h-Ehi71m2yFoTz_ShkEjM0DbQCaXIj23-FCGZ1k9Vw130_provenance {
  dgn-np:NP861261.RA4h-Ehi71m2yFoTz_ShkEjM0DbQCaXIj23-FCGZ1k9Vw130_assertion dcterms:description
      "[A transitional mutation in the fourth intron of CRYBB2 and some silent mutations in the first exon of BFSP2 and CRYGD were found in the cataract family, but further study showed that these mutations could also be found in normal controls.]. 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:21181374;
    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:NP861261.RA4h-Ehi71m2yFoTz_ShkEjM0DbQCaXIj23-FCGZ1k9Vw130_publicationInfo {
  this: dcterms:created "2016-05-13T12:48:15+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" .
}