@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI> .
@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:NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI130_head {
  this: np:hasAssertion dgn-np:NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI130_assertion ;
    np:hasProvenance dgn-np:NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI130_provenance ;
    np:hasPublicationInfo dgn-np:NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI130_assertion a np:Assertion .
  dgn-np:NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI130_provenance a np:Provenance .
  dgn-np:NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI130_assertion {
  miriam-gene:1756 a ncit:C16612 .
  lld:C0013264 a ncit:C7057 .
  dgn-gda:DGNda4f2359f417c01de9c8df03bc709afe sio:SIO_000628 miriam-gene:1756 , lld:C0013264 ;
    a sio:SIO_001121 .
}
dgn-np:NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI130_provenance {
  dgn-np:NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI130_assertion dcterms:description "[However, it is very difficult to find patients that are applicable for this therapy, because: (1) only 5-13% of DMD patients have nonsense mutations in the dystrophin gene, (2) it is challenging to find nonsense mutations in the gene because dystrophin cDNA is very long (14 kb), and (3) the efficiency of aminoglycoside-induced read-through is dependent on the kind of nonsense mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
    wi:evidence dgn-void:source_evidence_curated ;
    sio:SIO_000772 miriam-pubmed:16122626 ;
    prov:wasDerivedFrom dgn-void:ctd_human-20130708 ;
    prov:wasGeneratedBy eco:ECO_0000218 .
  dgn-void:ctd_human-20130708 pav:importedOn "2013-07-24"^^xsd:date .
  dgn-void:source_evidence_curated a eco:ECO_0000205 ;
    rdfs:comment "Gene-disease associations manually curated."@en ;
    rdfs:label "DisGeNET evidence - CURATED"@en .
}
dgn-np:NP13919.RAEjrGZVvDx4-uCJDjhqRnflQO08s09u1xj9TcNeAQPcI130_publicationInfo {
  this: dcterms:created "2014-10-02T12:32:04+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" .
}