@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q> .
@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/v3.0.0/void/> .
dgn-np:NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q130_head {
  this: np:hasAssertion dgn-np:NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q130_assertion ;
    np:hasProvenance dgn-np:NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q130_provenance ;
    np:hasPublicationInfo dgn-np:NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q130_assertion a np:Assertion .
  dgn-np:NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q130_provenance a np:Provenance .
  dgn-np:NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q130_assertion {
  miriam-gene:224 a ncit:C16612 .
  lld:C0275814 a ncit:C7057 .
  dgn-gda:DGNfc0f081439b22509b023fba51a14158a sio:SIO_000628 miriam-gene:224 , lld:C0275814 ;
    a sio:SIO_001121 .
}
dgn-np:NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q130_provenance {
  dgn-np:NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q130_assertion dcterms:description "[These observations document significant clinical variability and the nonprogressive neurological course of SLS in adult siblings with the same ALDH3A2 genotype, and demonstrate possible correlation of proton magnetic resonance spectroscopic changes with age, suggesting unknown pathogenic mechanisms to compensate for the responsible biochemical defect in this disease.]. 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:16476818 ;
    prov:wasDerivedFrom dgn-void:befree-20150227 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q130_publicationInfo {
  this: dcterms:created "2015-08-25T14:39:53+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 "v3.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}