@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP931064.RAmF0IDVUVZ9ykktRXR1w2Yheys6r5ac_rxKCrkpVlq18> .
@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:NP931064.RAmF0IDVUVZ9ykktRXR1w2Yheys6r5ac_rxKCrkpVlq18130_head {
  this: np:hasAssertion dgn-np:NP931064.RAmF0IDVUVZ9ykktRXR1w2Yheys6r5ac_rxKCrkpVlq18130_assertion;
    np:hasProvenance dgn-np:NP931064.RAmF0IDVUVZ9ykktRXR1w2Yheys6r5ac_rxKCrkpVlq18130_provenance;
    np:hasPublicationInfo dgn-np:NP931064.RAmF0IDVUVZ9ykktRXR1w2Yheys6r5ac_rxKCrkpVlq18130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP931064.RAmF0IDVUVZ9ykktRXR1w2Yheys6r5ac_rxKCrkpVlq18130_assertion a np:Assertion .
  
  dgn-np:NP931064.RAmF0IDVUVZ9ykktRXR1w2Yheys6r5ac_rxKCrkpVlq18130_provenance a np:Provenance .
  
  dgn-np:NP931064.RAmF0IDVUVZ9ykktRXR1w2Yheys6r5ac_rxKCrkpVlq18130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP931064.RAmF0IDVUVZ9ykktRXR1w2Yheys6r5ac_rxKCrkpVlq18130_assertion {
  miriam-gene:57514 a ncit:C16612 .
  
  lld:C0265268 a ncit:C7057 .
  
  dgn-gda:DGNf1540defccb71dd7769052747915b56d sio:SIO_000628 miriam-gene:57514, lld:C0265268;
    a sio:SIO_001122 .
}

dgn-np:NP931064.RAmF0IDVUVZ9ykktRXR1w2Yheys6r5ac_rxKCrkpVlq18130_provenance {
  dgn-np:NP931064.RAmF0IDVUVZ9ykktRXR1w2Yheys6r5ac_rxKCrkpVlq18130_assertion dcterms:description
      "[Using whole-genome sequencing in a cohort of 11 families lacking mutations in the four genes with known roles in AOS pathology (ARHGAP31, RBPJ, DOCK6, and EOGT), we found a heterozygous de novo 85 kb deletion spanning the NOTCH1 5' region and three coding variants (c.1285T&gt;C [p.Cys429Arg], c.4487G&gt;A [p.Cys1496Tyr], and c.5965G&gt;A [p.Asp1989Asn]), two of which are de novo, in four unrelated probands.]. 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:25132448;
    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:NP931064.RAmF0IDVUVZ9ykktRXR1w2Yheys6r5ac_rxKCrkpVlq18130_publicationInfo {
  this: dcterms:created "2015-08-25T14:47:08+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" .
}