http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA130_head http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA130_assertion http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA130_provenance http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA130_assertion http://identifiers.org/ncbigene/3785 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/C1852581 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/DGN37ba57a9e42c32edc9c89ab7ec12672b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3785 http://rdf.disgenet.org/resource/gda/DGN37ba57a9e42c32edc9c89ab7ec12672b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1852581 http://rdf.disgenet.org/resource/gda/DGN37ba57a9e42c32edc9c89ab7ec12672b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA130_provenance http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA130_assertion http://purl.org/dc/terms/description [Prompted by the recent identification of peculiar gating changes in Kv7.2 subunits caused by novel mutations responsible for BFNS, in the present work we attempt to link, whenever possible, the specific genetic defect with the clinical evolution of the disease in the affected families on one side, and, on the other, with the functional defects revealed by expression studies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA130_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/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18698150 http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA130_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/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA http://purl.org/dc/terms/created 2016-05-13T12:46:56+02:00 http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP687400.RA6FE8p-F8hnnbZa1ev9GUC8l3QQ0XjplzAQU27R9wNwA 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