@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP47948.RAbJsp03Ya6Lff0D1iB57bwK0juGCvH9hjap_zY2ZYx5E> .
@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:NP47948.RAbJsp03Ya6Lff0D1iB57bwK0juGCvH9hjap_zY2ZYx5E130_head {
  this: np:hasAssertion dgn-np:NP47948.RAbJsp03Ya6Lff0D1iB57bwK0juGCvH9hjap_zY2ZYx5E130_assertion ;
    np:hasProvenance dgn-np:NP47948.RAbJsp03Ya6Lff0D1iB57bwK0juGCvH9hjap_zY2ZYx5E130_provenance ;
    np:hasPublicationInfo dgn-np:NP47948.RAbJsp03Ya6Lff0D1iB57bwK0juGCvH9hjap_zY2ZYx5E130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP47948.RAbJsp03Ya6Lff0D1iB57bwK0juGCvH9hjap_zY2ZYx5E130_assertion a np:Assertion .
  dgn-np:NP47948.RAbJsp03Ya6Lff0D1iB57bwK0juGCvH9hjap_zY2ZYx5E130_provenance a np:Provenance .
  dgn-np:NP47948.RAbJsp03Ya6Lff0D1iB57bwK0juGCvH9hjap_zY2ZYx5E130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP47948.RAbJsp03Ya6Lff0D1iB57bwK0juGCvH9hjap_zY2ZYx5E130_assertion {
  miriam-gene:4287 a ncit:C16612 .
  lld:C0024408 a ncit:C7057 .
  dgn-gda:DGNe039f1716eb2b4dde523c33b840a7ca1 sio:SIO_000628 miriam-gene:4287 , lld:C0024408 ;
    a sio:SIO_001122 .
}
dgn-np:NP47948.RAbJsp03Ya6Lff0D1iB57bwK0juGCvH9hjap_zY2ZYx5E130_provenance {
  dgn-np:NP47948.RAbJsp03Ya6Lff0D1iB57bwK0juGCvH9hjap_zY2ZYx5E130_assertion dcterms:description "[These intragenic polymorphisms can be useful for (1) the study of the origin of the MJD mutation(s), (2) the study of recombination events, (3) distinction of chromosomes with alleles of identical (CAG)n size in genetic tests (homoallelism), (4) the study of genetic modifiers in the region flanking the MJD1 gene, and (5) association studies in other diseases.]. 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:12166658 ;
    prov:wasDerivedFrom dgn-void:gad-20130706 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP47948.RAbJsp03Ya6Lff0D1iB57bwK0juGCvH9hjap_zY2ZYx5E130_publicationInfo {
  this: dcterms:created "2014-10-02T12:32:22+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" .
}