@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk> .
@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:NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk130_head {
  this: np:hasAssertion dgn-np:NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk130_assertion;
    np:hasProvenance dgn-np:NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk130_provenance;
    np:hasPublicationInfo dgn-np:NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk130_assertion a np:Assertion .
  
  dgn-np:NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk130_provenance a np:Provenance .
  
  dgn-np:NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk130_assertion {
  miriam-gene:242 a ncit:C16612 .
  
  lld:C0079153 a ncit:C7057 .
  
  dgn-gda:DGN61d5159b0db6e5233a22a2429c53b38f sio:SIO_000628 miriam-gene:242, lld:C0079153;
    a sio:SIO_001121 .
}

dgn-np:NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk130_provenance {
  dgn-np:NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk130_assertion dcterms:description
      "[However, by adding new variants to the repertoire of ALOX12B mutations in non-bullous congenital ichthyosiform erythroderma, our data contribute to an enlargement of the spectrum of mutations for the development of efficient molecular genetic tests for analysis of at risk individuals whose carrier status is unknown.]. 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:17139268;
    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:NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:10+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>,
      <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" .
}