@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP601748.RAmqOp4JSsker5IPyavasSDvJLnbtJkXyLGsW1fzKXb8k> .
@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:NP601748.RAmqOp4JSsker5IPyavasSDvJLnbtJkXyLGsW1fzKXb8k130_head {
  this: np:hasAssertion dgn-np:NP601748.RAmqOp4JSsker5IPyavasSDvJLnbtJkXyLGsW1fzKXb8k130_assertion;
    np:hasProvenance dgn-np:NP601748.RAmqOp4JSsker5IPyavasSDvJLnbtJkXyLGsW1fzKXb8k130_provenance;
    np:hasPublicationInfo dgn-np:NP601748.RAmqOp4JSsker5IPyavasSDvJLnbtJkXyLGsW1fzKXb8k130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP601748.RAmqOp4JSsker5IPyavasSDvJLnbtJkXyLGsW1fzKXb8k130_assertion a np:Assertion .
  
  dgn-np:NP601748.RAmqOp4JSsker5IPyavasSDvJLnbtJkXyLGsW1fzKXb8k130_provenance a np:Provenance .
  
  dgn-np:NP601748.RAmqOp4JSsker5IPyavasSDvJLnbtJkXyLGsW1fzKXb8k130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP601748.RAmqOp4JSsker5IPyavasSDvJLnbtJkXyLGsW1fzKXb8k130_assertion {
  miriam-gene:1080 a ncit:C16612 .
  
  lld:C0010674 a ncit:C7057 .
  
  dgn-gda:DGN5cf28abe0aaa5158bfec3bed2ffeab92 sio:SIO_000628 miriam-gene:1080, lld:C0010674;
    a sio:SIO_001121 .
}

dgn-np:NP601748.RAmqOp4JSsker5IPyavasSDvJLnbtJkXyLGsW1fzKXb8k130_provenance {
  dgn-np:NP601748.RAmqOp4JSsker5IPyavasSDvJLnbtJkXyLGsW1fzKXb8k130_assertion dcterms:description
      "[The 5T sequence has not been included in the American College of Medical Genetics (ACMG) CFTR mutation panel recommended for screening pregnant women for an increased fetal risk of cystic fibrosis (CF; MIM 219700) because finding this allele would raise concern for possible CFTR gene-related symptoms in many fetuses, even though only a fraction inheriting 5T and another major CFTR mutation would develop CF-like symptoms.]. 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:17394391;
    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:NP601748.RAmqOp4JSsker5IPyavasSDvJLnbtJkXyLGsW1fzKXb8k130_publicationInfo {
  this: dcterms:created "2016-05-13T12:46:18+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" .
}