@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY> .
@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:NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_head {
  this: np:hasAssertion dgn-np:NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_assertion ;
    np:hasProvenance dgn-np:NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_provenance ;
    np:hasPublicationInfo dgn-np:NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_assertion a np:Assertion .
  dgn-np:NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_provenance a np:Provenance .
  dgn-np:NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_assertion {
  miriam-gene:7299 a ncit:C16612 .
  lld:C0078917 a ncit:C7057 .
  dgn-gda:DGNb454a057977649eb97730ba58e6a870f sio:SIO_000628 miriam-gene:7299 , lld:C0078917 ;
    a sio:SIO_001121 .
}
dgn-np:NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_provenance {
  dgn-np:NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_assertion dcterms:description "[Although sequence analysis was performed with all five candidate genes, only four (17.39%) of the 23 probands showed mutations in TYR and 2 probands (8.69%) showed an unreported novel mutation in P. Genetic counseling for phenotypical diagnosis and genetic mutation screening of these genes will help to minimize the incidence of OCA and OA in future generations.]. 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:20806075 ;
    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:NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:07+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" .
}