@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw> .
@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:NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_head {
  this: np:hasAssertion dgn-np:NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_assertion;
    np:hasProvenance dgn-np:NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_provenance;
    np:hasPublicationInfo dgn-np:NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_assertion a np:Assertion .
  
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  dgn-np:NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_publicationInfo a
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}

dgn-np:NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_assertion {
  miriam-gene:4935 a ncit:C16612 .
  
  lld:C0342684 a ncit:C7057 .
  
  dgn-gda:DGNa4c6e1ec7be2aea179b42533f9ca5bca sio:SIO_000628 miriam-gene:4935, lld:C0342684;
    a sio:SIO_001121 .
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dgn-np:NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_provenance {
  dgn-np:NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_assertion dcterms:description
      "[We present a hierarchical strategy for mutation screening for diagnostic testing for OA1 that comprises two tiers: first, multiplex PCR to detect intragenic deletions in the OA1 gene with denaturing high-performance liquid chromatography (dHPLC), and, second, heteroduplex analysis with dHPLC to scan for mutations, with subsequent sequencing of variants to confirm putative mutations in the OA1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_literature;
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    prov:wasDerivedFrom dgn-void:befree-2016;
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  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:NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_publicationInfo {
  this: dcterms:created "2016-05-13T12:44:30+02:00"^^xsd:dateTime;
    dcterms:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dcterms:rightsHolder dgn-void:IBIGroup;
    dcterms:subject sio:SIO_000983;
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    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 "v4.0.0.0" .
  
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