http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k#head http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k#assertion http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k#provenance http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k#assertion http://rdf.disgenet.org/resource/gda/DGN9f068bbae32f286f5061a92d2247c01b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1080 http://rdf.disgenet.org/resource/gda/DGN9f068bbae32f286f5061a92d2247c01b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0426576 http://rdf.disgenet.org/resource/gda/DGN9f068bbae32f286f5061a92d2247c01b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k#provenance http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k#assertion http://purl.org/dc/terms/description [The clinical features of the 6 year old were characterised by severe gastrointestinal and as yet only mild pulmonary complications whereas the 25 year old manifested severe pulmonary and gastrointestinal symptoms indicating that the N1303K mutation of the C-terminal CFTR nucleotide binding fold significantly impairs protein function in both the pancreas and the lungs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/1283148 http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k http://purl.org/dc/terms/created 2017-10-17T13:11:32+02:00 http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP211490.RA-7w1J1ot96E4PvGlrRFWXmCvZIdepmMR_D8dHgriL0k http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0