http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM130_head http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM130_assertion http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM130_assertion http://identifiers.org/ncbigene/1180 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0751360 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/gene-disease-association.ttl#DGN83b6b84ae69f2b2421d6e12069a64d78 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1180 http://rdf.disgenet.org/gene-disease-association.ttl#DGN83b6b84ae69f2b2421d6e12069a64d78 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751360 http://rdf.disgenet.org/gene-disease-association.ttl#DGN83b6b84ae69f2b2421d6e12069a64d78 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM130_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/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7951242 http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM http://purl.org/dc/terms/created 2014-10-02T12:35:29+02:00 http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP357265.RAJdiGlthS3YkXRMJJr_jFSJaz-ooxOKAqwtJhtdUe5xM http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0