http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE#head http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE#assertion http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE#provenance http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE#assertion http://rdf.disgenet.org/resource/gda/DGN710022ddafdc600db4fd1dc002065b3e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8910 http://rdf.disgenet.org/resource/gda/DGN710022ddafdc600db4fd1dc002065b3e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0014544 http://rdf.disgenet.org/resource/gda/DGN710022ddafdc600db4fd1dc002065b3e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE#provenance http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE#assertion http://purl.org/dc/terms/description [We report on the second M-D family in which several clinically affected epsilon-sarcoglycan gene (SGCE) mutation carriers have seizures in addition to myoclonus and dystonia, adding to the evidence that epilepsy and EEG abnormalities may form part of the phenotypic spectrum of the condition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE#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/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15389977 http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE#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/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE http://purl.org/dc/terms/created 2017-10-17T13:17:37+02:00 http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1166904.RAQFuv07hOr1fsm7Fu9GNW4tc16OVa8G-jqUdXgDFUMTE 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