@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8> .
@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:NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_head {
  this: np:hasAssertion dgn-np:NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_assertion;
    np:hasProvenance dgn-np:NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_provenance;
    np:hasPublicationInfo dgn-np:NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_assertion a np:Assertion .
  
  dgn-np:NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_provenance a np:Provenance .
  
  dgn-np:NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_assertion {
  miriam-gene:1738 a ncit:C16612 .
  
  lld:C0559758 a ncit:C7057 .
  
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    a sio:SIO_001121 .
}

dgn-np:NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_provenance {
  dgn-np:NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_assertion dcterms:description
      "[We analyzed human DLD mutations linked to strikingly different clinical phenotypes, including E340K, D444V, R447G, and R460G in the dimer interface domain that are responsible for severe multisystem disorders of infancy and G194C in the NAD(+)-binding domain that is typically associated with milder presentations.]. 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:21930696;
    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:NP927483.RAtCUtt3gzzQinJJKMCmY2S_EVIsa8Y7carM7LWZNRBO8130_publicationInfo {
  this: dcterms:created "2014-10-02T12:41:29+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>,
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    pav:createdBy <http://orcid.org/0000-0003-0169-8159>;
    pav:version "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}