@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP570359.RA2MxuNKaf-dF7GH4PwocFTSD1luVOaFQR_Y7oJm-I93k> .
@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:NP570359.RA2MxuNKaf-dF7GH4PwocFTSD1luVOaFQR_Y7oJm-I93k130_head {
  this: np:hasAssertion dgn-np:NP570359.RA2MxuNKaf-dF7GH4PwocFTSD1luVOaFQR_Y7oJm-I93k130_assertion;
    np:hasProvenance dgn-np:NP570359.RA2MxuNKaf-dF7GH4PwocFTSD1luVOaFQR_Y7oJm-I93k130_provenance;
    np:hasPublicationInfo dgn-np:NP570359.RA2MxuNKaf-dF7GH4PwocFTSD1luVOaFQR_Y7oJm-I93k130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP570359.RA2MxuNKaf-dF7GH4PwocFTSD1luVOaFQR_Y7oJm-I93k130_assertion a np:Assertion .
  
  dgn-np:NP570359.RA2MxuNKaf-dF7GH4PwocFTSD1luVOaFQR_Y7oJm-I93k130_provenance a np:Provenance .
  
  dgn-np:NP570359.RA2MxuNKaf-dF7GH4PwocFTSD1luVOaFQR_Y7oJm-I93k130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP570359.RA2MxuNKaf-dF7GH4PwocFTSD1luVOaFQR_Y7oJm-I93k130_assertion {
  miriam-gene:1406 a ncit:C16612 .
  
  lld:C0730290 a ncit:C7057 .
  
  dgn-gda:DGN321fbdec450b2b82d71e26fa88aab9a0 sio:SIO_000628 miriam-gene:1406, lld:C0730290;
    a sio:SIO_001121 .
}

dgn-np:NP570359.RA2MxuNKaf-dF7GH4PwocFTSD1luVOaFQR_Y7oJm-I93k130_provenance {
  dgn-np:NP570359.RA2MxuNKaf-dF7GH4PwocFTSD1luVOaFQR_Y7oJm-I93k130_assertion dcterms:description
      "[Upon screening 55 patients with Leber congenital amaurosis, 75 patients with cone-rod dystrophy, 13 with cone dystrophy, and 36 with recessive or isolate RP for changes in the CRX sequence, we found two patients with Leber congenital amaurosis who carried heterozygously one of two novel frameshift mutations.]. 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:11748859;
    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:NP570359.RA2MxuNKaf-dF7GH4PwocFTSD1luVOaFQR_Y7oJm-I93k130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:44+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" .
}