@prefix dc: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP2903.RAfrQQSNoORxhnD9_46MTVu_X38Ov2CXDSUV7K6vIpywU> .
@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 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:NP2903.RAfrQQSNoORxhnD9_46MTVu_X38Ov2CXDSUV7K6vIpywU130_head {
  this: np:hasAssertion dgn-np:NP2903.RAfrQQSNoORxhnD9_46MTVu_X38Ov2CXDSUV7K6vIpywU130_assertion;
    np:hasProvenance dgn-np:NP2903.RAfrQQSNoORxhnD9_46MTVu_X38Ov2CXDSUV7K6vIpywU130_provenance;
    np:hasPublicationInfo dgn-np:NP2903.RAfrQQSNoORxhnD9_46MTVu_X38Ov2CXDSUV7K6vIpywU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP2903.RAfrQQSNoORxhnD9_46MTVu_X38Ov2CXDSUV7K6vIpywU130_assertion a np:Assertion .
  
  dgn-np:NP2903.RAfrQQSNoORxhnD9_46MTVu_X38Ov2CXDSUV7K6vIpywU130_provenance a np:Provenance .
  
  dgn-np:NP2903.RAfrQQSNoORxhnD9_46MTVu_X38Ov2CXDSUV7K6vIpywU130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP2903.RAfrQQSNoORxhnD9_46MTVu_X38Ov2CXDSUV7K6vIpywU130_assertion {
  miriam-gene:4935 a ncit:C16612 .
  
  lld:C0342684 a ncit:C7057 .
  
  dgn-gda:DGN76b49cd839c174fa5c20706c1b6aceef sio:SIO_000628 miriam-gene:4935, lld:C0342684;
    a sio:SIO_001122 .
}

dgn-np:NP2903.RAfrQQSNoORxhnD9_46MTVu_X38Ov2CXDSUV7K6vIpywU130_provenance {
  dgn-np:NP2903.RAfrQQSNoORxhnD9_46MTVu_X38Ov2CXDSUV7K6vIpywU130_assertion dc:description
      "[Mutation analysis of the OA1 gene demonstrated seven presumed pathogenic mutations in the nine families with XLOA: five single nucleotide substitutions predicting a change of conserved amino acids (G35D, L39R, D78V, W133R and E233K) when compared with the mouse OA1 homologue, one deletion leading to the skipping of exon 2, and one single nucleotide substitution expected to affect the 5' splice site of intron 2 were found.]. 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:9887374;
    prov:wasDerivedFrom dgn-void:uniprot-20130724;
    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-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}

dgn-np:NP2903.RAfrQQSNoORxhnD9_46MTVu_X38Ov2CXDSUV7K6vIpywU130_publicationInfo {
  this: dc:created "2014-10-02T12:31:59+02:00"^^xsd:dateTime;
    dc:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dc:rightsHolder dgn-void:IBIGroup;
    dc: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>,
      <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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}