http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY#head http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY#assertion http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY#provenance http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY#assertion http://rdf.disgenet.org/resource/gda/DGN77e1e3073f6c500caf39a764be07a1f1 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/57190 http://rdf.disgenet.org/resource/gda/DGN77e1e3073f6c500caf39a764be07a1f1 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0700208 http://rdf.disgenet.org/resource/gda/DGN77e1e3073f6c500caf39a764be07a1f1 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY#provenance http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY#assertion http://purl.org/dc/terms/description [We sequenced SEPN1 in five unrelated CFTD patients with scoliosis and respiratory muscle weakness and screened an additional 22 CFTD patients for abnormalities in SEPN1 by Western blotting and restriction digest for the 943G-->A mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY#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/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16365872 http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY#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/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY http://purl.org/dc/terms/created 2017-10-17T13:18:44+02:00 http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1347245.RAnXZpCKF1EXSWRjBGL8o5IP_bY_Umb_YUraGxJmv8NIY 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