Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.T921delFs
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CDKL5

NM_001323289.2:p.T921delFs

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."