@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP367244.RAiRcQjMfFKfK4y8m3aUR1taHVxxGpPV3n40Gm2QnpRFU> .
@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:NP367244.RAiRcQjMfFKfK4y8m3aUR1taHVxxGpPV3n40Gm2QnpRFU130_head {
   this: np:hasAssertion dgn-np:NP367244.RAiRcQjMfFKfK4y8m3aUR1taHVxxGpPV3n40Gm2QnpRFU130_assertion ;
    np:hasProvenance dgn-np:NP367244.RAiRcQjMfFKfK4y8m3aUR1taHVxxGpPV3n40Gm2QnpRFU130_provenance ;
    np:hasPublicationInfo dgn-np:NP367244.RAiRcQjMfFKfK4y8m3aUR1taHVxxGpPV3n40Gm2QnpRFU130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP367244.RAiRcQjMfFKfK4y8m3aUR1taHVxxGpPV3n40Gm2QnpRFU130_assertion a np:Assertion .
  dgn-np:NP367244.RAiRcQjMfFKfK4y8m3aUR1taHVxxGpPV3n40Gm2QnpRFU130_provenance a np:Provenance .
  dgn-np:NP367244.RAiRcQjMfFKfK4y8m3aUR1taHVxxGpPV3n40Gm2QnpRFU130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP367244.RAiRcQjMfFKfK4y8m3aUR1taHVxxGpPV3n40Gm2QnpRFU130_assertion {
   miriam-gene:10044 a ncit:C16612 .
  lld:C0005745 a ncit:C7057 .
  dgn-gda:DGNfe8535472f05ddc90d0d60450069296e sio:SIO_000628 miriam-gene:10044 , lld:C0005745 ;
    a sio:SIO_001121 .
}
dgn-np:NP367244.RAiRcQjMfFKfK4y8m3aUR1taHVxxGpPV3n40Gm2QnpRFU130_provenance {
   dgn-np:NP367244.RAiRcQjMfFKfK4y8m3aUR1taHVxxGpPV3n40Gm2QnpRFU130_assertion dcterms:description "[We suggest that some of the other features present in more than one patient with deletion, including hypotonia, sleep apnea, chronic constipation, gastroesophageal and vesicoureteral refluxes, epilepsy, ataxia, dysphagia, nystagmus, and ptosis may result from deletion of the CHAT gene, encoding choline acetyltransferase, and the SLC18A3 gene, mapping in the first intron of CHAT and encoding vesicular acetylcholine transporter.]. 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:21948486 ;
    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:NP367244.RAiRcQjMfFKfK4y8m3aUR1taHVxxGpPV3n40Gm2QnpRFU130_publicationInfo {
   this: dcterms:created "2014-10-02T12:35:35+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" .
}