http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg130_head
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg130_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/C0553604
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/resource/gda/DGNa7765dcd877ce74fcebe92f9306572b9
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1180
http://rdf.disgenet.org/resource/gda/DGNa7765dcd877ce74fcebe92f9306572b9
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0553604
http://rdf.disgenet.org/resource/gda/DGNa7765dcd877ce74fcebe92f9306572b9
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg130_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/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/7951242
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://purl.org/pav/importedOn
2016-02-19
http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg
http://purl.org/dc/terms/created
2016-05-13T12:51:48+02:00
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1327999.RAQMt5nSxOHx3tc8TMcVruVNl7XoFu3f-pFdnJ_CVW0eg
http://purl.org/pav/version
v4.0.0.0
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v4.0.0