http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q#head
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q#assertion
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q#provenance
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q#assertion
http://rdf.disgenet.org/resource/gda/DGN887f365ede9adb343c0fba683307e97d
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/8910
http://rdf.disgenet.org/resource/gda/DGN887f365ede9adb343c0fba683307e97d
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1834570
http://rdf.disgenet.org/resource/gda/DGN887f365ede9adb343c0fba683307e97d
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q#provenance
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q#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/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q#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/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/15389977
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q#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/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q
http://purl.org/dc/terms/created
2017-10-17T13:17:37+02:00
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1166725.RAywQDYL7iWN0gMZobY8g_o2j11A1YEsAfEZsHmHWoE_Q
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