Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1258806.RAhzIKFqAvFJXjZNukYUL8KkUQvC06t_thECVf7_Nen7s130_assertion> ?p ?o ?g. }
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- NP1258806.RAhzIKFqAvFJXjZNukYUL8KkUQvC06t_thECVf7_Nen7s130_assertion type Assertion NP1258806.RAhzIKFqAvFJXjZNukYUL8KkUQvC06t_thECVf7_Nen7s130_head.
- NP1258806.RAhzIKFqAvFJXjZNukYUL8KkUQvC06t_thECVf7_Nen7s130_assertion description "[The previously reported EFHC1 mutation F229L was found in two cases who presented with early generalized tonic-clonic seizure (GTCS) onset and appeared to be associated with milder subtypes of JME.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1258806.RAhzIKFqAvFJXjZNukYUL8KkUQvC06t_thECVf7_Nen7s130_provenance.
- NP1258806.RAhzIKFqAvFJXjZNukYUL8KkUQvC06t_thECVf7_Nen7s130_assertion evidence source_evidence_literature NP1258806.RAhzIKFqAvFJXjZNukYUL8KkUQvC06t_thECVf7_Nen7s130_provenance.
- NP1258806.RAhzIKFqAvFJXjZNukYUL8KkUQvC06t_thECVf7_Nen7s130_assertion SIO_000772 25625532 NP1258806.RAhzIKFqAvFJXjZNukYUL8KkUQvC06t_thECVf7_Nen7s130_provenance.
- NP1258806.RAhzIKFqAvFJXjZNukYUL8KkUQvC06t_thECVf7_Nen7s130_assertion wasDerivedFrom befree-2016 NP1258806.RAhzIKFqAvFJXjZNukYUL8KkUQvC06t_thECVf7_Nen7s130_provenance.
- NP1258806.RAhzIKFqAvFJXjZNukYUL8KkUQvC06t_thECVf7_Nen7s130_assertion wasGeneratedBy ECO_0000203 NP1258806.RAhzIKFqAvFJXjZNukYUL8KkUQvC06t_thECVf7_Nen7s130_provenance.