@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1056199.RAZ2LpU-7Gg9-tjJDIqWIdeOjFO27GFpkXrnyXTvq_ImM> .
@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:NP1056199.RAZ2LpU-7Gg9-tjJDIqWIdeOjFO27GFpkXrnyXTvq_ImM130_head {
  this: np:hasAssertion dgn-np:NP1056199.RAZ2LpU-7Gg9-tjJDIqWIdeOjFO27GFpkXrnyXTvq_ImM130_assertion;
    np:hasProvenance dgn-np:NP1056199.RAZ2LpU-7Gg9-tjJDIqWIdeOjFO27GFpkXrnyXTvq_ImM130_provenance;
    np:hasPublicationInfo dgn-np:NP1056199.RAZ2LpU-7Gg9-tjJDIqWIdeOjFO27GFpkXrnyXTvq_ImM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1056199.RAZ2LpU-7Gg9-tjJDIqWIdeOjFO27GFpkXrnyXTvq_ImM130_assertion a np:Assertion .
  
  dgn-np:NP1056199.RAZ2LpU-7Gg9-tjJDIqWIdeOjFO27GFpkXrnyXTvq_ImM130_provenance a np:Provenance .
  
  dgn-np:NP1056199.RAZ2LpU-7Gg9-tjJDIqWIdeOjFO27GFpkXrnyXTvq_ImM130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1056199.RAZ2LpU-7Gg9-tjJDIqWIdeOjFO27GFpkXrnyXTvq_ImM130_assertion {
  miriam-gene:23418 a ncit:C16612 .
  
  lld:C0339527 a ncit:C7057 .
  
  dgn-gda:DGNbd8124ff08b93357aa3d291b899c43b1 sio:SIO_000628 miriam-gene:23418, lld:C0339527;
    a sio:SIO_001122 .
}

dgn-np:NP1056199.RAZ2LpU-7Gg9-tjJDIqWIdeOjFO27GFpkXrnyXTvq_ImM130_provenance {
  dgn-np:NP1056199.RAZ2LpU-7Gg9-tjJDIqWIdeOjFO27GFpkXrnyXTvq_ImM130_assertion dcterms:description
      "[In the family, four patients with Leber congenital amaurosis were homozygous for a novel c.2557C&gt;T (p.Q853X) mutation in the CRB1 gene, while of two cases with Stargardt disease, one was homozygous for c.5461-10T&gt;C in the ABCA4 gene and another was carrier of the same mutation and a novel ABCA4 mutation c.4773+3A&gt;G. Sequence analysis of the entire ABCA4 gene in patients with Stargardt disease revealed complex alleles with additional sequence variants, which were evaluated by bioinformatics tools.]. 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:23443024;
    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:NP1056199.RAZ2LpU-7Gg9-tjJDIqWIdeOjFO27GFpkXrnyXTvq_ImM130_publicationInfo {
  this: dcterms:created "2016-05-13T12:49:45+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" .
}