http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo#head
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo#assertion
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo#provenance
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo#assertion
http://rdf.disgenet.org/resource/gda/DGNd9d7b781b4f198b88f621529d9f8d447
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1080
http://rdf.disgenet.org/resource/gda/DGNd9d7b781b4f198b88f621529d9f8d447
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0010674
http://rdf.disgenet.org/resource/gda/DGNd9d7b781b4f198b88f621529d9f8d447
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo#provenance
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo#assertion
http://purl.org/dc/terms/description
[In order to characterize the non-delta F508 mutations that account for 36% of cystic fibrosis (CF) chromosomes in Southern France in a sample of 137 patients, we have systematically screened the entire coding region and adjacent sequences of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by the single strand conformation polymorphism (SSCP) technique followed by direct sequencing of the mutant DNAs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo#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/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/7691344
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo#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/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo
http://purl.org/dc/terms/created
2017-10-17T13:11:32+02:00
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP209819.RALmIglYhfeD5-SQWFZR90T6rQV_yqiYpBJEZ5alFNHHo
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