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Q49060228-8A07415A-1DD2-4EA0-9CA5-EC740DC89338
Q49060228-8A07415A-1DD2-4EA0-9CA5-EC740DC89338
BestRank
Statement
http://www.wikidata.org/entity/statement/Q49060228-8A07415A-1DD2-4EA0-9CA5-EC740DC89338
A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.
P2860
Q49060228-8A07415A-1DD2-4EA0-9CA5-EC740DC89338
BestRank
Statement
http://www.wikidata.org/entity/statement/Q49060228-8A07415A-1DD2-4EA0-9CA5-EC740DC89338
rank
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type
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Statement
wasDerivedFrom
4b7013ccd52f13190b1da1bb7f5ba837831e5caf
P2860
A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder