@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP1049871.RApjjecGl1YNJzrMR8uoqV3aMYb09Ul-6L3Lw8ESsPu6U130_head { this: np:hasAssertion dgn-np:NP1049871.RApjjecGl1YNJzrMR8uoqV3aMYb09Ul-6L3Lw8ESsPu6U130_assertion; np:hasProvenance dgn-np:NP1049871.RApjjecGl1YNJzrMR8uoqV3aMYb09Ul-6L3Lw8ESsPu6U130_provenance; np:hasPublicationInfo dgn-np:NP1049871.RApjjecGl1YNJzrMR8uoqV3aMYb09Ul-6L3Lw8ESsPu6U130_publicationInfo; a np:Nanopublication . dgn-np:NP1049871.RApjjecGl1YNJzrMR8uoqV3aMYb09Ul-6L3Lw8ESsPu6U130_assertion a np:Assertion . dgn-np:NP1049871.RApjjecGl1YNJzrMR8uoqV3aMYb09Ul-6L3Lw8ESsPu6U130_provenance a np:Provenance . dgn-np:NP1049871.RApjjecGl1YNJzrMR8uoqV3aMYb09Ul-6L3Lw8ESsPu6U130_publicationInfo a np:PublicationInfo . } dgn-np:NP1049871.RApjjecGl1YNJzrMR8uoqV3aMYb09Ul-6L3Lw8ESsPu6U130_assertion { miriam-gene:1080 a ncit:C16612 . lld:C0010674 a ncit:C7057 . dgn-gda:DGNd91401dc442b0bc7c8ca78a3521807a0 sio:SIO_000628 miriam-gene:1080, lld:C0010674; a sio:SIO_001122 . } dgn-np:NP1049871.RApjjecGl1YNJzrMR8uoqV3aMYb09Ul-6L3Lw8ESsPu6U130_provenance { dgn-np:NP1049871.RApjjecGl1YNJzrMR8uoqV3aMYb09Ul-6L3Lw8ESsPu6U130_assertion dcterms:description "[The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened for CF has created a dilemma.]. 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:23378603; 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:NP1049871.RApjjecGl1YNJzrMR8uoqV3aMYb09Ul-6L3Lw8ESsPu6U130_publicationInfo { this: dcterms:created "2016-05-13T12:49:42+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }