@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP559973.RAVQDwatCXzyr0jbjirDCdmoliussh_YnDWpX5WebgoCA> .
@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/v4.0.0/void/> .

dgn-np:NP559973.RAVQDwatCXzyr0jbjirDCdmoliussh_YnDWpX5WebgoCA130_head {
  this: np:hasAssertion dgn-np:NP559973.RAVQDwatCXzyr0jbjirDCdmoliussh_YnDWpX5WebgoCA130_assertion;
    np:hasProvenance dgn-np:NP559973.RAVQDwatCXzyr0jbjirDCdmoliussh_YnDWpX5WebgoCA130_provenance;
    np:hasPublicationInfo dgn-np:NP559973.RAVQDwatCXzyr0jbjirDCdmoliussh_YnDWpX5WebgoCA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP559973.RAVQDwatCXzyr0jbjirDCdmoliussh_YnDWpX5WebgoCA130_assertion a np:Assertion .
  
  dgn-np:NP559973.RAVQDwatCXzyr0jbjirDCdmoliussh_YnDWpX5WebgoCA130_provenance a np:Provenance .
  
  dgn-np:NP559973.RAVQDwatCXzyr0jbjirDCdmoliussh_YnDWpX5WebgoCA130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP559973.RAVQDwatCXzyr0jbjirDCdmoliussh_YnDWpX5WebgoCA130_assertion {
  miriam-gene:10743 a ncit:C16612 .
  
  lld:C0155552 a ncit:C7057 .
  
  dgn-gda:DGNf180d3529c72dee72f6c29328fce301c sio:SIO_000628 miriam-gene:10743, lld:C0155552;
    a sio:SIO_001121 .
}

dgn-np:NP559973.RAVQDwatCXzyr0jbjirDCdmoliussh_YnDWpX5WebgoCA130_provenance {
  dgn-np:NP559973.RAVQDwatCXzyr0jbjirDCdmoliussh_YnDWpX5WebgoCA130_assertion dcterms:description
      "[Phenotypic comparison between patients with deletions and patients with RAI1 mutations show that 21 of 30 SMS features are the result of haploinsufficiency of RAI1, whereas cardiac anomalies, speech and motor delay, hypotonia, short stature, and hearing loss are associated with 17p11.2 deletions rather than RAI1 mutations (P&lt;.05).]. 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:16845274;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP559973.RAVQDwatCXzyr0jbjirDCdmoliussh_YnDWpX5WebgoCA130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:58+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: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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}