http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo#head
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo#assertion
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo#provenance
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo#assertion
http://rdf.disgenet.org/resource/gda/DGNe7f9be9e5127a3bfb2ae22ac06db113c
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1180
http://rdf.disgenet.org/resource/gda/DGNe7f9be9e5127a3bfb2ae22ac06db113c
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0553604
http://rdf.disgenet.org/resource/gda/DGNe7f9be9e5127a3bfb2ae22ac06db113c
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo#provenance
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo#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/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo#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/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/7951242
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo#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/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo
http://purl.org/dc/terms/created
2017-10-17T13:11:35+02:00
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP217892.RA2eP9uAnMPtJXMG3vtNMm3wfH8oSzinsxrfqWcM29mVo
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