@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw> .
@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/v4.0.0/void/> .

dgn-np:NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw130_head {
  this: np:hasAssertion dgn-np:NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw130_assertion;
    np:hasProvenance dgn-np:NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw130_provenance;
    np:hasPublicationInfo dgn-np:NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw130_assertion a np:Assertion .
  
  dgn-np:NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw130_provenance a np:Provenance .
  
  dgn-np:NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw130_assertion {
  miriam-gene:23203 a ncit:C16612 .
  
  lld:C0007758 a ncit:C7057 .
  
  dgn-gda:DGN79cae3a4fec86d17736b82f3d1bd6a78 sio:SIO_000628 miriam-gene:23203, lld:C0007758;
    a sio:SIO_001121 .
}

dgn-np:NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw130_provenance {
  dgn-np:NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw130_assertion dcterms:description
      "[We report the identification of mutations in PMPCA in 17 patients from four families affected with cerebellar ataxia, including the large Lebanese family previously described with autosomal recessive cerebellar ataxia and short stature of Norman type and localized to chromosome 9q34 (OMIM #213200).]. 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:25808372;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:23+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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}