@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1181668.RAsJ2LcBrdpexW5dNacOldQ8vWgqjysH4npvoNEsRkTp0> .
@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:NP1181668.RAsJ2LcBrdpexW5dNacOldQ8vWgqjysH4npvoNEsRkTp0130_head {
   this: np:hasAssertion dgn-np:NP1181668.RAsJ2LcBrdpexW5dNacOldQ8vWgqjysH4npvoNEsRkTp0130_assertion ;
    np:hasProvenance dgn-np:NP1181668.RAsJ2LcBrdpexW5dNacOldQ8vWgqjysH4npvoNEsRkTp0130_provenance ;
    np:hasPublicationInfo dgn-np:NP1181668.RAsJ2LcBrdpexW5dNacOldQ8vWgqjysH4npvoNEsRkTp0130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP1181668.RAsJ2LcBrdpexW5dNacOldQ8vWgqjysH4npvoNEsRkTp0130_assertion a np:Assertion .
  dgn-np:NP1181668.RAsJ2LcBrdpexW5dNacOldQ8vWgqjysH4npvoNEsRkTp0130_provenance a np:Provenance .
  dgn-np:NP1181668.RAsJ2LcBrdpexW5dNacOldQ8vWgqjysH4npvoNEsRkTp0130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP1181668.RAsJ2LcBrdpexW5dNacOldQ8vWgqjysH4npvoNEsRkTp0130_assertion {
   miriam-gene:64324 a ncit:C16612 .
  lld:C0036572 a ncit:C7057 .
  dgn-gda:DGNc4bd81949c113714c4aa4321482c2a0f sio:SIO_000628 miriam-gene:64324 , lld:C0036572 ;
    a sio:SIO_001121 .
}
dgn-np:NP1181668.RAsJ2LcBrdpexW5dNacOldQ8vWgqjysH4npvoNEsRkTp0130_provenance {
   dgn-np:NP1181668.RAsJ2LcBrdpexW5dNacOldQ8vWgqjysH4npvoNEsRkTp0130_assertion dcterms:description "[Reverse clinical phenotype due to 5q35 microduplication encompassing NSD1 gene has been reported so far in 27 cases presenting with delayed bone age, microcephaly, failure to thrive and seizures in some cases, further supporting a gene dosage effect of NSD1 on growth regulation and neurological functions.]. 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:24819041 ;
    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:NP1181668.RAsJ2LcBrdpexW5dNacOldQ8vWgqjysH4npvoNEsRkTp0130_publicationInfo {
   this: dcterms:created "2016-05-13T12:50:41+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" .
}