@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo> .
@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:NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo130_head {
  this: np:hasAssertion dgn-np:NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo130_assertion ;
    np:hasProvenance dgn-np:NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo130_provenance ;
    np:hasPublicationInfo dgn-np:NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo130_assertion a np:Assertion .
  dgn-np:NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo130_provenance a np:Provenance .
  dgn-np:NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo130_assertion {
  miriam-gene:23230 a ncit:C16612 .
  lld:C0020179 a ncit:C7057 .
  dgn-gda:DGN9208de5c40adaa4dcd70a307e22a39b4 sio:SIO_000628 miriam-gene:23230 , lld:C0020179 ;
    a sio:SIO_001121 .
}
dgn-np:NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo130_provenance {
  dgn-np:NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo130_assertion dcterms:description "[To investigate chorein abnormalities of the skeletal muscles of ChAc patients with an apparently heterozygous VPS13A mutation compared with those of other hereditary choreic diseases, we performed histological and immunohistochemical studies of the skeletal muscles from 3 ChAc, 1 Huntington's disease (HD), 1 McLeod syndrome (MLS), and 1 normal control (NC) with 2 originally generated anti-chorein antibodies.]. 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:17345646 ;
    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:NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo130_publicationInfo {
  this: dcterms:created "2014-10-02T12:36:31+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" .
}