http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw130_head http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw130_assertion http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw130_provenance http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw130_assertion http://identifiers.org/ncbigene/6329 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/C3714552 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/DGN8f1dcf34fc55b7b9c41409f86a47a7a3 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6329 http://rdf.disgenet.org/resource/gda/DGN8f1dcf34fc55b7b9c41409f86a47a7a3 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3714552 http://rdf.disgenet.org/resource/gda/DGN8f1dcf34fc55b7b9c41409f86a47a7a3 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw130_provenance http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw130_assertion http://purl.org/dc/terms/description [In a large family with historic data on seven generations and a clear phenotype, including myotonia at movement onset, with worsening by cold temperature, pregnancy, mental stress, and especially after rest after intense physical activity, but without weakness, the phenotype was linked with the muscle sodium channel gene (SCN4A) locus, in which a novel p.I141V mutation was found.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19015483 http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw http://purl.org/dc/terms/created 2015-08-25T14:44:31+02:00 http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP682913.RAn0rygrXU5iwrKZ-DT5rm66ekB2TeqedGQaX6t3xNxOw http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0