@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:NP311604.RAO_sfOQ8m9J1Sy_QIrp_fh6Ax_CqTydQKyhYCVSdMwHs130_head { this: np:hasAssertion dgn-np:NP311604.RAO_sfOQ8m9J1Sy_QIrp_fh6Ax_CqTydQKyhYCVSdMwHs130_assertion; np:hasProvenance dgn-np:NP311604.RAO_sfOQ8m9J1Sy_QIrp_fh6Ax_CqTydQKyhYCVSdMwHs130_provenance; np:hasPublicationInfo dgn-np:NP311604.RAO_sfOQ8m9J1Sy_QIrp_fh6Ax_CqTydQKyhYCVSdMwHs130_publicationInfo; a np:Nanopublication . dgn-np:NP311604.RAO_sfOQ8m9J1Sy_QIrp_fh6Ax_CqTydQKyhYCVSdMwHs130_assertion a np:Assertion . dgn-np:NP311604.RAO_sfOQ8m9J1Sy_QIrp_fh6Ax_CqTydQKyhYCVSdMwHs130_provenance a np:Provenance . dgn-np:NP311604.RAO_sfOQ8m9J1Sy_QIrp_fh6Ax_CqTydQKyhYCVSdMwHs130_publicationInfo a np:PublicationInfo . } dgn-np:NP311604.RAO_sfOQ8m9J1Sy_QIrp_fh6Ax_CqTydQKyhYCVSdMwHs130_assertion { miriam-gene:1080 a ncit:C16612 . lld:C0860006 a ncit:C7057 . dgn-gda:DGN00e87a382947f37b49b6ef2235415811 sio:SIO_000628 miriam-gene:1080, lld:C0860006; a sio:SIO_001121 . } dgn-np:NP311604.RAO_sfOQ8m9J1Sy_QIrp_fh6Ax_CqTydQKyhYCVSdMwHs130_provenance { dgn-np:NP311604.RAO_sfOQ8m9J1Sy_QIrp_fh6Ax_CqTydQKyhYCVSdMwHs130_assertion dcterms:description "[We carried out molecular screening for mutations in the cystic fibrosis transmembrane regulator (CFTR) gene in eight children of Sardinian descent seen because of hypotonic dehydration associated with hyponatremia, hypochloremia, hypokalemia, and metabolic alkalosis; none had pulmonary or pancreatic involvement.]. 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:7543567; 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:NP311604.RAO_sfOQ8m9J1Sy_QIrp_fh6Ax_CqTydQKyhYCVSdMwHs130_publicationInfo { this: dcterms:created "2015-08-25T14:40:39+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }