@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP314319.RAvnMq76KwtK-eThiZw_gYQbWO_FywvsV7Jcn_8_wIH6k> .
@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/v3.0.0/void/> .

dgn-np:NP314319.RAvnMq76KwtK-eThiZw_gYQbWO_FywvsV7Jcn_8_wIH6k130_head {
  this: np:hasAssertion dgn-np:NP314319.RAvnMq76KwtK-eThiZw_gYQbWO_FywvsV7Jcn_8_wIH6k130_assertion;
    np:hasProvenance dgn-np:NP314319.RAvnMq76KwtK-eThiZw_gYQbWO_FywvsV7Jcn_8_wIH6k130_provenance;
    np:hasPublicationInfo dgn-np:NP314319.RAvnMq76KwtK-eThiZw_gYQbWO_FywvsV7Jcn_8_wIH6k130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP314319.RAvnMq76KwtK-eThiZw_gYQbWO_FywvsV7Jcn_8_wIH6k130_assertion a np:Assertion .
  
  dgn-np:NP314319.RAvnMq76KwtK-eThiZw_gYQbWO_FywvsV7Jcn_8_wIH6k130_provenance a np:Provenance .
  
  dgn-np:NP314319.RAvnMq76KwtK-eThiZw_gYQbWO_FywvsV7Jcn_8_wIH6k130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP314319.RAvnMq76KwtK-eThiZw_gYQbWO_FywvsV7Jcn_8_wIH6k130_assertion {
  miriam-gene:1137 a ncit:C16612 .
  
  lld:C0751882 a ncit:C7057 .
  
  dgn-gda:DGNd38cfe934bc144fc68bc8e1140d8a480 sio:SIO_000628 miriam-gene:1137, lld:C0751882;
    a sio:SIO_001121 .
}

dgn-np:NP314319.RAvnMq76KwtK-eThiZw_gYQbWO_FywvsV7Jcn_8_wIH6k130_provenance {
  dgn-np:NP314319.RAvnMq76KwtK-eThiZw_gYQbWO_FywvsV7Jcn_8_wIH6k130_assertion dcterms:description
      "[Mutations in neuronal nAChRs are found in a rare form of familial nocturnal frontal lobe epilepsy (ADNFLE), while mutations in the neuromuscular subtype of the nAChR are responsible for either congenital myasthenia syndromes (adult subtype of neuromuscular nAChR) or a form of arthrogryposis multiplex congenita type Escobar (fetal subtype of neuromuscular nAChR).]. 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:17434185;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP314319.RAvnMq76KwtK-eThiZw_gYQbWO_FywvsV7Jcn_8_wIH6k130_publicationInfo {
  this: dcterms:created "2015-08-25T14:40:40+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}