@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP540426.RAof6HiXmuuY6cMUMmEFKLpm_DzSAQksxY5QKV-YR4eQQ> .
@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:NP540426.RAof6HiXmuuY6cMUMmEFKLpm_DzSAQksxY5QKV-YR4eQQ130_head {
  this: np:hasAssertion dgn-np:NP540426.RAof6HiXmuuY6cMUMmEFKLpm_DzSAQksxY5QKV-YR4eQQ130_assertion;
    np:hasProvenance dgn-np:NP540426.RAof6HiXmuuY6cMUMmEFKLpm_DzSAQksxY5QKV-YR4eQQ130_provenance;
    np:hasPublicationInfo dgn-np:NP540426.RAof6HiXmuuY6cMUMmEFKLpm_DzSAQksxY5QKV-YR4eQQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP540426.RAof6HiXmuuY6cMUMmEFKLpm_DzSAQksxY5QKV-YR4eQQ130_assertion a np:Assertion .
  
  dgn-np:NP540426.RAof6HiXmuuY6cMUMmEFKLpm_DzSAQksxY5QKV-YR4eQQ130_provenance a np:Provenance .
  
  dgn-np:NP540426.RAof6HiXmuuY6cMUMmEFKLpm_DzSAQksxY5QKV-YR4eQQ130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP540426.RAof6HiXmuuY6cMUMmEFKLpm_DzSAQksxY5QKV-YR4eQQ130_assertion {
  miriam-gene:5781 a ncit:C16612 .
  
  lld:C0013336 a ncit:C7057 .
  
  dgn-gda:DGNe6abbfbf9ed1926a1496b111c4f000c0 sio:SIO_000628 miriam-gene:5781, lld:C0013336;
    a sio:SIO_001121 .
}

dgn-np:NP540426.RAof6HiXmuuY6cMUMmEFKLpm_DzSAQksxY5QKV-YR4eQQ130_provenance {
  dgn-np:NP540426.RAof6HiXmuuY6cMUMmEFKLpm_DzSAQksxY5QKV-YR4eQQ130_assertion dcterms:description
      "[We conclude that each mutation contributed independently to individual features in the ocular and cardiovascular systems, although short stature was more significantly influenced by the p.Y279C change in PTPN11 rather than the mutation in FBN1.]. 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:19725129;
    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:NP540426.RAof6HiXmuuY6cMUMmEFKLpm_DzSAQksxY5QKV-YR4eQQ130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:26+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" .
}