@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP389216.RAymEGj1OLH9DknPE9bbrm4FGDa2_CnGcpS032FKPMto8> .
@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:NP389216.RAymEGj1OLH9DknPE9bbrm4FGDa2_CnGcpS032FKPMto8130_head {
   this: np:hasAssertion dgn-np:NP389216.RAymEGj1OLH9DknPE9bbrm4FGDa2_CnGcpS032FKPMto8130_assertion ;
    np:hasProvenance dgn-np:NP389216.RAymEGj1OLH9DknPE9bbrm4FGDa2_CnGcpS032FKPMto8130_provenance ;
    np:hasPublicationInfo dgn-np:NP389216.RAymEGj1OLH9DknPE9bbrm4FGDa2_CnGcpS032FKPMto8130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP389216.RAymEGj1OLH9DknPE9bbrm4FGDa2_CnGcpS032FKPMto8130_assertion a np:Assertion .
  dgn-np:NP389216.RAymEGj1OLH9DknPE9bbrm4FGDa2_CnGcpS032FKPMto8130_provenance a np:Provenance .
  dgn-np:NP389216.RAymEGj1OLH9DknPE9bbrm4FGDa2_CnGcpS032FKPMto8130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP389216.RAymEGj1OLH9DknPE9bbrm4FGDa2_CnGcpS032FKPMto8130_assertion {
   miriam-gene:57216 a ncit:C16612 .
  lld:C0018798 a ncit:C7057 .
  dgn-gda:DGN856c7c490a131e438d329030e35b795b sio:SIO_000628 miriam-gene:57216 , lld:C0018798 ;
    a sio:SIO_001121 .
}
dgn-np:NP389216.RAymEGj1OLH9DknPE9bbrm4FGDa2_CnGcpS032FKPMto8130_provenance {
   dgn-np:NP389216.RAymEGj1OLH9DknPE9bbrm4FGDa2_CnGcpS032FKPMto8130_assertion dcterms:description "[Recognised clinical signs include EXT, FPP, mental retardation, facial asymmetry, asymmetric calcification of coronary sutures, defective vision (severe myopia, nystagmus, strabismus), skeletal anomalies (small hands and feet, tapering fingers), heart defect, and anal stenosis.]. 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:14872200 ;
    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:NP389216.RAymEGj1OLH9DknPE9bbrm4FGDa2_CnGcpS032FKPMto8130_publicationInfo {
   this: dcterms:created "2014-10-02T12:35:52+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" .
}