http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0#head http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0#assertion http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0#provenance http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0#assertion http://rdf.disgenet.org/resource/gda/DGN0d13b743fd04a4e928399f74c9ab6f36 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/57190 http://rdf.disgenet.org/resource/gda/DGN0d13b743fd04a4e928399f74c9ab6f36 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0030552 http://rdf.disgenet.org/resource/gda/DGN0d13b743fd04a4e928399f74c9ab6f36 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0#provenance http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0#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/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0#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/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16365872 http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0#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/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0 http://purl.org/dc/terms/created 2017-10-17T13:18:44+02:00 http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1347194.RALsGLoroCrIJW-6lvdmEPMsrpDWlKPngkTexWpcB9Lp0 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