@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:NP437964.RAoGCz0gVvAFqqEe6CsAPIM87u1AMxthecJ0JJAm0wjks130_head { this: np:hasAssertion dgn-np:NP437964.RAoGCz0gVvAFqqEe6CsAPIM87u1AMxthecJ0JJAm0wjks130_assertion; np:hasProvenance dgn-np:NP437964.RAoGCz0gVvAFqqEe6CsAPIM87u1AMxthecJ0JJAm0wjks130_provenance; np:hasPublicationInfo dgn-np:NP437964.RAoGCz0gVvAFqqEe6CsAPIM87u1AMxthecJ0JJAm0wjks130_publicationInfo; a np:Nanopublication . dgn-np:NP437964.RAoGCz0gVvAFqqEe6CsAPIM87u1AMxthecJ0JJAm0wjks130_assertion a np:Assertion . dgn-np:NP437964.RAoGCz0gVvAFqqEe6CsAPIM87u1AMxthecJ0JJAm0wjks130_provenance a np:Provenance . dgn-np:NP437964.RAoGCz0gVvAFqqEe6CsAPIM87u1AMxthecJ0JJAm0wjks130_publicationInfo a np:PublicationInfo . } dgn-np:NP437964.RAoGCz0gVvAFqqEe6CsAPIM87u1AMxthecJ0JJAm0wjks130_assertion { miriam-gene:1188 a ncit:C16612 . lld:C0018784 a ncit:C7057 . dgn-gda:DGN58d5034eea1bfe2ee2bf7f9f22456b19 sio:SIO_000628 miriam-gene:1188, lld:C0018784; a sio:SIO_001121 . } dgn-np:NP437964.RAoGCz0gVvAFqqEe6CsAPIM87u1AMxthecJ0JJAm0wjks130_provenance { dgn-np:NP437964.RAoGCz0gVvAFqqEe6CsAPIM87u1AMxthecJ0JJAm0wjks130_assertion dcterms:description "[Neonatal Bartter's syndrome is caused by mutations of NKCC2 or ROMK, classic Bartter's syndrome by mutations of ClC-Kb, Bartter's syndrome associated with sensorineural deafness is due to mutations of BSND, Gitelman's syndrome to mutations of NCCT and Bartter's syndrome associated with autosomal dominant hypocalcemia is linked to mutations of CASR.]. 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:15056980; 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:NP437964.RAoGCz0gVvAFqqEe6CsAPIM87u1AMxthecJ0JJAm0wjks130_publicationInfo { this: dcterms:created "2016-05-13T12:45:03+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" . }