Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_provenance.
- NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_assertion 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." NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_provenance.
- NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_assertion evidence source_evidence_curated NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_provenance.
- NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_assertion SIO_000772 7543567 NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_provenance.
- NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_assertion wasDerivedFrom uniprot-2016 NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_provenance.
- NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_assertion wasGeneratedBy ECO_0000218 NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_provenance.