http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI#head http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI#assertion http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI#provenance http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI#assertion http://rdf.disgenet.org/resource/gda/DGNe1561c54abf17f8e0ded875d99e02d45 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1180 http://rdf.disgenet.org/resource/gda/DGNe1561c54abf17f8e0ded875d99e02d45 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0917713 http://rdf.disgenet.org/resource/gda/DGNe1561c54abf17f8e0ded875d99e02d45 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI#provenance http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI#assertion http://purl.org/dc/terms/description [Mutations in the gene encoding this chloride channel (CLCN1) are responsible for both human purely myotonic disorders, autosomal recessive generalized myotonia (Becker's disease, GM) and autosomal dominant myotonia congenita (Thomsen's disease, MC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI#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/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7951242 http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI#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/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI http://purl.org/dc/terms/created 2017-10-17T13:11:35+02:00 http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP217938.RAr2M34tMTFucYYjTWhVC9aIzE14801V2ZHl7mPxCzTGI 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