@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1099471.RAGidhh2Hcc4ZoPaapY-eqo5H24uU8uIfiwoatWBGupK4> .
@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/v4.0.0/void/> .

dgn-np:NP1099471.RAGidhh2Hcc4ZoPaapY-eqo5H24uU8uIfiwoatWBGupK4130_head {
  this: np:hasAssertion dgn-np:NP1099471.RAGidhh2Hcc4ZoPaapY-eqo5H24uU8uIfiwoatWBGupK4130_assertion;
    np:hasProvenance dgn-np:NP1099471.RAGidhh2Hcc4ZoPaapY-eqo5H24uU8uIfiwoatWBGupK4130_provenance;
    np:hasPublicationInfo dgn-np:NP1099471.RAGidhh2Hcc4ZoPaapY-eqo5H24uU8uIfiwoatWBGupK4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1099471.RAGidhh2Hcc4ZoPaapY-eqo5H24uU8uIfiwoatWBGupK4130_assertion a np:Assertion .
  
  dgn-np:NP1099471.RAGidhh2Hcc4ZoPaapY-eqo5H24uU8uIfiwoatWBGupK4130_provenance a np:Provenance .
  
  dgn-np:NP1099471.RAGidhh2Hcc4ZoPaapY-eqo5H24uU8uIfiwoatWBGupK4130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1099471.RAGidhh2Hcc4ZoPaapY-eqo5H24uU8uIfiwoatWBGupK4130_assertion {
  miriam-gene:5332 a ncit:C16612 .
  
  lld:C1865295 a ncit:C7057 .
  
  dgn-gda:DGNa78e67d5b0dc39c862a60c482419da16 sio:SIO_000628 miriam-gene:5332, lld:C1865295;
    a sio:SIO_001121 .
}

dgn-np:NP1099471.RAGidhh2Hcc4ZoPaapY-eqo5H24uU8uIfiwoatWBGupK4130_provenance {
  dgn-np:NP1099471.RAGidhh2Hcc4ZoPaapY-eqo5H24uU8uIfiwoatWBGupK4130_assertion dcterms:description
      "[This is the first example of ACS caused by compound heterozygous splice site mutations in PLCB4, the second autosomal recessive case of ACS confirmed by molecular analysis, and strengthens the link between complete loss of function of PLCB4 and extra-craniofacial features.]. 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:23913798;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1099471.RAGidhh2Hcc4ZoPaapY-eqo5H24uU8uIfiwoatWBGupK4130_publicationInfo {
  this: dcterms:created "2016-05-13T12:50:04+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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}