@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP255871.RAlkuE9MG3m1zYBUBJm23K4IRzrM4LLhVKFYA0NCjNtK4> .
@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:NP255871.RAlkuE9MG3m1zYBUBJm23K4IRzrM4LLhVKFYA0NCjNtK4130_head {
  this: np:hasAssertion dgn-np:NP255871.RAlkuE9MG3m1zYBUBJm23K4IRzrM4LLhVKFYA0NCjNtK4130_assertion;
    np:hasProvenance dgn-np:NP255871.RAlkuE9MG3m1zYBUBJm23K4IRzrM4LLhVKFYA0NCjNtK4130_provenance;
    np:hasPublicationInfo dgn-np:NP255871.RAlkuE9MG3m1zYBUBJm23K4IRzrM4LLhVKFYA0NCjNtK4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP255871.RAlkuE9MG3m1zYBUBJm23K4IRzrM4LLhVKFYA0NCjNtK4130_assertion a np:Assertion .
  
  dgn-np:NP255871.RAlkuE9MG3m1zYBUBJm23K4IRzrM4LLhVKFYA0NCjNtK4130_provenance a np:Provenance .
  
  dgn-np:NP255871.RAlkuE9MG3m1zYBUBJm23K4IRzrM4LLhVKFYA0NCjNtK4130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP255871.RAlkuE9MG3m1zYBUBJm23K4IRzrM4LLhVKFYA0NCjNtK4130_assertion {
  miriam-gene:64324 a ncit:C16612 .
  
  lld:C0175695 a ncit:C7057 .
  
  dgn-gda:DGN7c0bd9cc15a95027476d682466a4ddbb sio:SIO_000628 miriam-gene:64324, lld:C0175695;
    a sio:SIO_001121 .
}

dgn-np:NP255871.RAlkuE9MG3m1zYBUBJm23K4IRzrM4LLhVKFYA0NCjNtK4130_provenance {
  dgn-np:NP255871.RAlkuE9MG3m1zYBUBJm23K4IRzrM4LLhVKFYA0NCjNtK4130_assertion dcterms:description
      "[Our findings suggest that Sotos syndrome is a rare cause of autism spectrum disorders and that screening for NSD1 mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome.]. 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:18001468;
    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:NP255871.RAlkuE9MG3m1zYBUBJm23K4IRzrM4LLhVKFYA0NCjNtK4130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:23+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" .
}