http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_head
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_assertion
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_provenance
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_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/C0027127
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/DGN1f607aa8459eb291d16897a58dbf7a2a
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1180
http://rdf.disgenet.org/resource/gda/DGN1f607aa8459eb291d16897a58dbf7a2a
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0027127
http://rdf.disgenet.org/resource/gda/DGN1f607aa8459eb291d16897a58dbf7a2a
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_provenance
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_assertion
http://purl.org/dc/terms/description
[Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_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/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/10215406
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_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/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE
http://purl.org/dc/terms/created
2016-05-13T12:43:40+02:00
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP250983.RA6Pi8ZYu-mqa_ALT8MCZbkPX6DLLYg6OOLkay0_YfcBE
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