http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ130_head http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ130_assertion http://identifiers.org/ncbigene/6337 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/C0268436 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/DGN98eb37f95161c21d77fd4d36439a2128 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6337 http://rdf.disgenet.org/resource/gda/DGN98eb37f95161c21d77fd4d36439a2128 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0268436 http://rdf.disgenet.org/resource/gda/DGN98eb37f95161c21d77fd4d36439a2128 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ130_assertion http://purl.org/dc/terms/description [A consanguineous family from Somalia giving birth to a neonate suffering from PHA1 was studied including clinical and hormonal characteristics of the family, mutational analysis of the SCNN1A, SCNN1B, SCNN1G and CFTR genes and in vitro analysis of the functional consequences of a mutant ENaC channel.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18547339 http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ http://purl.org/dc/terms/created 2015-08-25T14:44:32+02:00 http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP683594.RAbDh9ykUCKiTevBRDjaBfqVf1wnl9sq4uMTaynuL5xhQ http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0