@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP664626.RAflq0MX_LiAYkmQLG7oSjUedVcPNoQ653cCQHWhRdIG0> .
@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:NP664626.RAflq0MX_LiAYkmQLG7oSjUedVcPNoQ653cCQHWhRdIG0130_head {
   this: np:hasAssertion dgn-np:NP664626.RAflq0MX_LiAYkmQLG7oSjUedVcPNoQ653cCQHWhRdIG0130_assertion ;
    np:hasProvenance dgn-np:NP664626.RAflq0MX_LiAYkmQLG7oSjUedVcPNoQ653cCQHWhRdIG0130_provenance ;
    np:hasPublicationInfo dgn-np:NP664626.RAflq0MX_LiAYkmQLG7oSjUedVcPNoQ653cCQHWhRdIG0130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP664626.RAflq0MX_LiAYkmQLG7oSjUedVcPNoQ653cCQHWhRdIG0130_assertion a np:Assertion .
  dgn-np:NP664626.RAflq0MX_LiAYkmQLG7oSjUedVcPNoQ653cCQHWhRdIG0130_provenance a np:Provenance .
  dgn-np:NP664626.RAflq0MX_LiAYkmQLG7oSjUedVcPNoQ653cCQHWhRdIG0130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP664626.RAflq0MX_LiAYkmQLG7oSjUedVcPNoQ653cCQHWhRdIG0130_assertion {
   miriam-gene:57216 a ncit:C16612 .
  lld:C0025958 a ncit:C7057 .
  dgn-gda:DGN4148d04d98b7038cda909a3e3c73436b sio:SIO_000628 miriam-gene:57216 , lld:C0025958 ;
    a sio:SIO_001121 .
}
dgn-np:NP664626.RAflq0MX_LiAYkmQLG7oSjUedVcPNoQ653cCQHWhRdIG0130_provenance {
   dgn-np:NP664626.RAflq0MX_LiAYkmQLG7oSjUedVcPNoQ653cCQHWhRdIG0130_assertion dcterms:description "[The propositus was a 16-month-old caucasian male with 1) mental retardation, 2) congenital microcephaly, 3) postnatal growth deficiency, 4) ridged metopic suture with narrow bifrontal diameter, 5) upslanted palpebral fissures with persistent epicanthal folds, strabismus, and lacrimal duct obstruction, 6) narrow palate, 7) macrodontia, 8) anteverted ears, 9) atrial septal defect, 10) dry brittle scalp hair and 11) cutis marmorata.]. 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:6711604 ;
    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:NP664626.RAflq0MX_LiAYkmQLG7oSjUedVcPNoQ653cCQHWhRdIG0130_publicationInfo {
   this: dcterms:created "2014-10-02T12:38:41+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: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" .
}