http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_head http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_assertion http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_provenance http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_assertion http://identifiers.org/ncbigene/1080 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0010674 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGNfdcd562afb9096c3bb97499152dd60f3 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1080 http://rdf.disgenet.org/resource/gda/DGNfdcd562afb9096c3bb97499152dd60f3 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0010674 http://rdf.disgenet.org/resource/gda/DGNfdcd562afb9096c3bb97499152dd60f3 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_provenance http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7543567 http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/uniprot-2016 http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000218 http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000205 http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/v4.0.0/void/uniprot-2016 http://purl.org/pav/importedOn 2016-01-25 http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA http://purl.org/dc/terms/created 2016-05-13T12:41:53+02:00 http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0