@prefix dcterms: . @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 np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ130_head { this: np:hasAssertion dgn-np:NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ130_assertion; np:hasProvenance dgn-np:NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ130_provenance; np:hasPublicationInfo dgn-np:NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ130_publicationInfo; a np:Nanopublication . dgn-np:NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ130_assertion a np:Assertion . dgn-np:NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ130_provenance a np:Provenance . dgn-np:NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ130_assertion { miriam-gene:6559 a ncit:C16612 . lld:C0268450 a ncit:C7057 . dgn-gda:DGNa09070c034fb00a158e5d7dd4643f09b sio:SIO_000628 miriam-gene:6559, lld:C0268450; a sio:SIO_001122 . } dgn-np:NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ130_provenance { dgn-np:NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ130_assertion dcterms:description "[Inactivation mutations of the luminal thiazide-sensitive NaCl cotransporter (NCC) in the distal convoluted tubules or the basolateral chloride channel (CLCNKB) in the distal nephron are the most common genetic mutations in Gitelman's syndrome (GS) or Bartter's syndrome (BS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:15687331; prov:wasDerivedFrom dgn-void:uniprot-20130724; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date . } dgn-np:NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ130_publicationInfo { this: dcterms:created "2014-10-02T12:32:00+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }