Associated Papers
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Keehan L et al.
American Journal of Medical Genetics. Part A, 2022
Pitfalls of clinical exome and gene panel testing: alternative transcripts.
Bodian DL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
CDKL5 variants: Improving our understanding of a rare neurologic disorder.
Hector RD et al.
Neurology. Genetics, 2017
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