@prefix orcid: <http://orcid.org/> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc> .
@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:NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc130_head {
  this: np:hasAssertion dgn-np:NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc130_assertion;
    np:hasProvenance dgn-np:NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc130_provenance;
    np:hasPublicationInfo dgn-np:NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc130_assertion a np:Assertion .
  
  dgn-np:NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc130_provenance a np:Provenance .
  
  dgn-np:NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc130_assertion {
  miriam-gene:435 a ncit:C16612 .
  
  lld:C0268547 a ncit:C7057 .
  
  dgn-gda:DGN682ed3be734c3ca0a9d00e7b1bbadff3 sio:SIO_000628 miriam-gene:435, lld:C0268547;
    a sio:SIO_001122 .
}

dgn-np:NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc130_provenance {
  dgn-np:NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc130_assertion dcterms:description
      "[We conclude (i) that the identification of the R95C mutation in strain 944 demonstrates that virtually all ASAL deficiency results from defects in the ASAL structural gene and (ii) that minor alternative splicing of the coding region occurs at the ASAL locus.]. 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:2263616;
    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:NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc130_publicationInfo {
  this: dcterms:created "2014-10-02T12:31:58+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 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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}