@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP883303.RA8yKvaosXsHY86UtmZ-SnAF7ah-nHqRAfu09PBj47Goo> .
@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/v3.0.0/void/> .

dgn-np:NP883303.RA8yKvaosXsHY86UtmZ-SnAF7ah-nHqRAfu09PBj47Goo130_head {
  this: np:hasAssertion dgn-np:NP883303.RA8yKvaosXsHY86UtmZ-SnAF7ah-nHqRAfu09PBj47Goo130_assertion;
    np:hasProvenance dgn-np:NP883303.RA8yKvaosXsHY86UtmZ-SnAF7ah-nHqRAfu09PBj47Goo130_provenance;
    np:hasPublicationInfo dgn-np:NP883303.RA8yKvaosXsHY86UtmZ-SnAF7ah-nHqRAfu09PBj47Goo130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP883303.RA8yKvaosXsHY86UtmZ-SnAF7ah-nHqRAfu09PBj47Goo130_assertion a np:Assertion .
  
  dgn-np:NP883303.RA8yKvaosXsHY86UtmZ-SnAF7ah-nHqRAfu09PBj47Goo130_provenance a np:Provenance .
  
  dgn-np:NP883303.RA8yKvaosXsHY86UtmZ-SnAF7ah-nHqRAfu09PBj47Goo130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP883303.RA8yKvaosXsHY86UtmZ-SnAF7ah-nHqRAfu09PBj47Goo130_assertion {
  miriam-gene:26354 a ncit:C16612 .
  
  lld:C1328931 a ncit:C7057 .
  
  dgn-gda:DGN581c676ef06911b66b1dd87a585f9bb4 sio:SIO_000628 miriam-gene:26354, lld:C1328931;
    a sio:SIO_001122 .
}

dgn-np:NP883303.RA8yKvaosXsHY86UtmZ-SnAF7ah-nHqRAfu09PBj47Goo130_provenance {
  dgn-np:NP883303.RA8yKvaosXsHY86UtmZ-SnAF7ah-nHqRAfu09PBj47Goo130_assertion dcterms:description
      "[We screened nine patients with ML/LEOPARD syndrome (including a mother-daughter pair) and two children with NS who had multiple café au lait spots, for mutations in the NS gene, PTPN11, and found, in 10 of 11 patients, one of two new missense mutations, in exon 7 or exon 12.]. 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:12058348;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP883303.RA8yKvaosXsHY86UtmZ-SnAF7ah-nHqRAfu09PBj47Goo130_publicationInfo {
  this: dcterms:created "2015-08-25T14:46:38+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:disgenetv3.0rdf;
    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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}