Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.
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Haviland I, et al. Among authors: crippa m.
Am J Med Genet A. 2024 Aug 28:e63843. doi: 10.1002/ajmg.a.63843. Online ahead of print.
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PMID: 39205479