Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP173005.RAfVBZ9xCtBG_yIzU2l-5DjzajKcHlm3DMs9n7HtGdk80130_assertion> ?p ?o ?g. }
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- NP173005.RAfVBZ9xCtBG_yIzU2l-5DjzajKcHlm3DMs9n7HtGdk80130_assertion type Assertion NP173005.RAfVBZ9xCtBG_yIzU2l-5DjzajKcHlm3DMs9n7HtGdk80130_head.
- NP173005.RAfVBZ9xCtBG_yIzU2l-5DjzajKcHlm3DMs9n7HtGdk80130_assertion wasGeneratedBy ECO_0000203 NP173005.RAfVBZ9xCtBG_yIzU2l-5DjzajKcHlm3DMs9n7HtGdk80130_provenance.
- NP173005.RAfVBZ9xCtBG_yIzU2l-5DjzajKcHlm3DMs9n7HtGdk80130_assertion wasDerivedFrom befree-20140225 NP173005.RAfVBZ9xCtBG_yIzU2l-5DjzajKcHlm3DMs9n7HtGdk80130_provenance.
- NP173005.RAfVBZ9xCtBG_yIzU2l-5DjzajKcHlm3DMs9n7HtGdk80130_assertion SIO_000772 15389977 NP173005.RAfVBZ9xCtBG_yIzU2l-5DjzajKcHlm3DMs9n7HtGdk80130_provenance.
- NP173005.RAfVBZ9xCtBG_yIzU2l-5DjzajKcHlm3DMs9n7HtGdk80130_assertion evidence source_evidence_literature NP173005.RAfVBZ9xCtBG_yIzU2l-5DjzajKcHlm3DMs9n7HtGdk80130_provenance.
- NP173005.RAfVBZ9xCtBG_yIzU2l-5DjzajKcHlm3DMs9n7HtGdk80130_assertion 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." NP173005.RAfVBZ9xCtBG_yIzU2l-5DjzajKcHlm3DMs9n7HtGdk80130_provenance.