Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP461718.RAPteGYh6p6xpm2KzzUZ_ydhCW7WGvhgAZMRhXb8-UEa4130_assertion> ?p ?o ?g. }
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- NP461718.RAPteGYh6p6xpm2KzzUZ_ydhCW7WGvhgAZMRhXb8-UEa4130_assertion type Assertion NP461718.RAPteGYh6p6xpm2KzzUZ_ydhCW7WGvhgAZMRhXb8-UEa4130_head.
- NP461718.RAPteGYh6p6xpm2KzzUZ_ydhCW7WGvhgAZMRhXb8-UEa4130_assertion wasGeneratedBy ECO_0000203 NP461718.RAPteGYh6p6xpm2KzzUZ_ydhCW7WGvhgAZMRhXb8-UEa4130_provenance.
- NP461718.RAPteGYh6p6xpm2KzzUZ_ydhCW7WGvhgAZMRhXb8-UEa4130_assertion wasDerivedFrom befree-2016 NP461718.RAPteGYh6p6xpm2KzzUZ_ydhCW7WGvhgAZMRhXb8-UEa4130_provenance.
- NP461718.RAPteGYh6p6xpm2KzzUZ_ydhCW7WGvhgAZMRhXb8-UEa4130_assertion SIO_000772 15389977 NP461718.RAPteGYh6p6xpm2KzzUZ_ydhCW7WGvhgAZMRhXb8-UEa4130_provenance.
- NP461718.RAPteGYh6p6xpm2KzzUZ_ydhCW7WGvhgAZMRhXb8-UEa4130_assertion evidence source_evidence_literature NP461718.RAPteGYh6p6xpm2KzzUZ_ydhCW7WGvhgAZMRhXb8-UEa4130_provenance.
- NP461718.RAPteGYh6p6xpm2KzzUZ_ydhCW7WGvhgAZMRhXb8-UEa4130_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." NP461718.RAPteGYh6p6xpm2KzzUZ_ydhCW7WGvhgAZMRhXb8-UEa4130_provenance.