@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP910830.RAHzNlU329REo9zerR4Jh3XMF9vb-hY6Huakh7lDdVw_8> .
@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:NP910830.RAHzNlU329REo9zerR4Jh3XMF9vb-hY6Huakh7lDdVw_8130_head {
  this: np:hasAssertion dgn-np:NP910830.RAHzNlU329REo9zerR4Jh3XMF9vb-hY6Huakh7lDdVw_8130_assertion;
    np:hasProvenance dgn-np:NP910830.RAHzNlU329REo9zerR4Jh3XMF9vb-hY6Huakh7lDdVw_8130_provenance;
    np:hasPublicationInfo dgn-np:NP910830.RAHzNlU329REo9zerR4Jh3XMF9vb-hY6Huakh7lDdVw_8130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP910830.RAHzNlU329REo9zerR4Jh3XMF9vb-hY6Huakh7lDdVw_8130_assertion a np:Assertion .
  
  dgn-np:NP910830.RAHzNlU329REo9zerR4Jh3XMF9vb-hY6Huakh7lDdVw_8130_provenance a np:Provenance .
  
  dgn-np:NP910830.RAHzNlU329REo9zerR4Jh3XMF9vb-hY6Huakh7lDdVw_8130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP910830.RAHzNlU329REo9zerR4Jh3XMF9vb-hY6Huakh7lDdVw_8130_assertion {
  miriam-gene:54413 a ncit:C16612 .
  
  lld:C0004352 a ncit:C7057 .
  
  dgn-gda:DGN11a2cc039e19b1bbe9fde6d304d0ce27 sio:SIO_000628 miriam-gene:54413, lld:C0004352;
    a sio:SIO_001122 .
}

dgn-np:NP910830.RAHzNlU329REo9zerR4Jh3XMF9vb-hY6Huakh7lDdVw_8130_provenance {
  dgn-np:NP910830.RAHzNlU329REo9zerR4Jh3XMF9vb-hY6Huakh7lDdVw_8130_assertion dcterms:description
      "[By incorporating the R451C mutation found in neuroligin (NLGN) and associated with autism and the thyroglobulin G2320R (G221R in NLGN) mutation responsible for congenital hypothyroidism into NLGN3, we show that mutations in the alpha/beta-hydrolase fold domain influence folding and biosynthetic processing of neuroligin3 as determined by in vitro susceptibility to proteases, glycosylation processing, turnover, and processing rates.]. 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:20615874;
    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:NP910830.RAHzNlU329REo9zerR4Jh3XMF9vb-hY6Huakh7lDdVw_8130_publicationInfo {
  this: dcterms:created "2015-08-25T14:46:56+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" .
}