@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP825116.RAiQIqNXSFrGZAKg4Grn_-rt65LwN2y8be2yjq59URQ5s> .
@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:NP825116.RAiQIqNXSFrGZAKg4Grn_-rt65LwN2y8be2yjq59URQ5s130_head {
  this: np:hasAssertion dgn-np:NP825116.RAiQIqNXSFrGZAKg4Grn_-rt65LwN2y8be2yjq59URQ5s130_assertion;
    np:hasProvenance dgn-np:NP825116.RAiQIqNXSFrGZAKg4Grn_-rt65LwN2y8be2yjq59URQ5s130_provenance;
    np:hasPublicationInfo dgn-np:NP825116.RAiQIqNXSFrGZAKg4Grn_-rt65LwN2y8be2yjq59URQ5s130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP825116.RAiQIqNXSFrGZAKg4Grn_-rt65LwN2y8be2yjq59URQ5s130_assertion a np:Assertion .
  
  dgn-np:NP825116.RAiQIqNXSFrGZAKg4Grn_-rt65LwN2y8be2yjq59URQ5s130_provenance a np:Provenance .
  
  dgn-np:NP825116.RAiQIqNXSFrGZAKg4Grn_-rt65LwN2y8be2yjq59URQ5s130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP825116.RAiQIqNXSFrGZAKg4Grn_-rt65LwN2y8be2yjq59URQ5s130_assertion {
  miriam-gene:9517 a ncit:C16612 .
  
  lld:C0020071 a ncit:C7057 .
  
  dgn-gda:DGN9f2957d00329c66c61eec1b36923c0ab sio:SIO_000628 miriam-gene:9517, lld:C0020071;
    a sio:SIO_001122 .
}

dgn-np:NP825116.RAiQIqNXSFrGZAKg4Grn_-rt65LwN2y8be2yjq59URQ5s130_provenance {
  dgn-np:NP825116.RAiQIqNXSFrGZAKg4Grn_-rt65LwN2y8be2yjq59URQ5s130_assertion dcterms:description
      "[The three human hLCB2a HSAN1 mutations map onto Sp SPT (V246M, G268V, and G385F), and these mutant mimics reveal that the amino acid changes have varying impacts; they perturb the PLP cofactor binding, reduce the affinity for both substrates, decrease the enzyme activity, and, in the most severe case, cause the protein to be expressed in an insoluble form.]. 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:24175284;
    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:NP825116.RAiQIqNXSFrGZAKg4Grn_-rt65LwN2y8be2yjq59URQ5s130_publicationInfo {
  this: dcterms:created "2015-08-25T14:46:00+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" .
}