@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1128.RAotLW7bqGepQXR6lPe_BxfS0OSWUmMj0LEjSsKOzphI0> .
@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 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:NP1128.RAotLW7bqGepQXR6lPe_BxfS0OSWUmMj0LEjSsKOzphI0130_head {
  this: np:hasAssertion dgn-np:NP1128.RAotLW7bqGepQXR6lPe_BxfS0OSWUmMj0LEjSsKOzphI0130_assertion;
    np:hasProvenance dgn-np:NP1128.RAotLW7bqGepQXR6lPe_BxfS0OSWUmMj0LEjSsKOzphI0130_provenance;
    np:hasPublicationInfo dgn-np:NP1128.RAotLW7bqGepQXR6lPe_BxfS0OSWUmMj0LEjSsKOzphI0130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1128.RAotLW7bqGepQXR6lPe_BxfS0OSWUmMj0LEjSsKOzphI0130_assertion a np:Assertion .
  
  dgn-np:NP1128.RAotLW7bqGepQXR6lPe_BxfS0OSWUmMj0LEjSsKOzphI0130_provenance a np:Provenance .
  
  dgn-np:NP1128.RAotLW7bqGepQXR6lPe_BxfS0OSWUmMj0LEjSsKOzphI0130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP1128.RAotLW7bqGepQXR6lPe_BxfS0OSWUmMj0LEjSsKOzphI0130_assertion {
  miriam-gene:6683 a ncit:C16612 .
  
  lld:C1866855 a ncit:C7057 .
  
  dgn-gda:DGNe122de94ff77a985425e6f2f312ea656 sio:SIO_000628 miriam-gene:6683, lld:C1866855;
    a sio:SIO_001122 .
}

dgn-np:NP1128.RAotLW7bqGepQXR6lPe_BxfS0OSWUmMj0LEjSsKOzphI0130_provenance {
  dgn-np:NP1128.RAotLW7bqGepQXR6lPe_BxfS0OSWUmMj0LEjSsKOzphI0130_assertion dcterms:description
      "[We identified five novel mutations in the spastin gene in five families with SPG4 mutations from North America and Tunisia and showed the absence of correlation between the predicted mutant spastin protein and age at onset of symptoms.]. 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:11087788;
    prov:wasDerivedFrom dgn-void:uniprot-2016;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  
  dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date .
}

dgn-np:NP1128.RAotLW7bqGepQXR6lPe_BxfS0OSWUmMj0LEjSsKOzphI0130_publicationInfo {
  this: dcterms:created "2016-05-13T12:41:50+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 orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
      orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
    pav:createdBy orcid:0000-0003-0169-8159;
    pav:version "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}