@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP12190.RA8NldvhgKG8Zu4QVHtgbH5RnjzdhmqB9XfTlNViK2I4A> .
@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:NP12190.RA8NldvhgKG8Zu4QVHtgbH5RnjzdhmqB9XfTlNViK2I4A130_head {
  this: np:hasAssertion dgn-np:NP12190.RA8NldvhgKG8Zu4QVHtgbH5RnjzdhmqB9XfTlNViK2I4A130_assertion ;
    np:hasProvenance dgn-np:NP12190.RA8NldvhgKG8Zu4QVHtgbH5RnjzdhmqB9XfTlNViK2I4A130_provenance ;
    np:hasPublicationInfo dgn-np:NP12190.RA8NldvhgKG8Zu4QVHtgbH5RnjzdhmqB9XfTlNViK2I4A130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP12190.RA8NldvhgKG8Zu4QVHtgbH5RnjzdhmqB9XfTlNViK2I4A130_assertion a np:Assertion .
  dgn-np:NP12190.RA8NldvhgKG8Zu4QVHtgbH5RnjzdhmqB9XfTlNViK2I4A130_provenance a np:Provenance .
  dgn-np:NP12190.RA8NldvhgKG8Zu4QVHtgbH5RnjzdhmqB9XfTlNViK2I4A130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP12190.RA8NldvhgKG8Zu4QVHtgbH5RnjzdhmqB9XfTlNViK2I4A130_assertion {
  miriam-gene:26047 a ncit:C16612 .
  lld:C1970431 a ncit:C7057 .
  dgn-gda:DGNf36bf962d80eefc7cf5a633d1a7f9e25 sio:SIO_000628 miriam-gene:26047 , lld:C1970431 ;
    a sio:SIO_001121 .
}
dgn-np:NP12190.RA8NldvhgKG8Zu4QVHtgbH5RnjzdhmqB9XfTlNViK2I4A130_provenance {
  dgn-np:NP12190.RA8NldvhgKG8Zu4QVHtgbH5RnjzdhmqB9XfTlNViK2I4A130_assertion dcterms:description "[We now identified homozygous and compound-heterozygous deletions and mutations via molecular karyotyping and mutational screening in CNTNAP2 and NRXN1 in four patients with severe mental retardation (MR) and variable features, such as autistic behavior, epilepsy, and breathing anomalies, phenotypically overlapping with Pitt-Hopkins syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
    wi:evidence dgn-void:source_evidence_curated ;
    sio:SIO_000772 miriam-pubmed:19896112 ;
    prov:wasDerivedFrom dgn-void:ctd_human-20130708 ;
    prov:wasGeneratedBy eco:ECO_0000218 .
  dgn-void:ctd_human-20130708 pav:importedOn "2013-07-24"^^xsd:date .
  dgn-void:source_evidence_curated a eco:ECO_0000205 ;
    rdfs:comment "Gene-disease associations manually curated."@en ;
    rdfs:label "DisGeNET evidence - CURATED"@en .
}
dgn-np:NP12190.RA8NldvhgKG8Zu4QVHtgbH5RnjzdhmqB9XfTlNViK2I4A130_publicationInfo {
  this: dcterms:created "2014-10-02T12:32:03+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" .
}