Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.Y594*
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CDKL5

NM_001323289.2:p.Y594*

Associated Papers

A Novel Mouse Model Unveils Protein Deficiency in Truncated CDKL5 Mutations.

Feng X et al.

Neuroscience Bulletin, 2025

Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA.

Dimassi S et al.

Applied & Translational Genomics, 2015

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

Boutry-Kryza N et al.

European Journal of Medical Genetics, 2015

There is variability in the attainment of developmental milestones in the CDKL5 disorder.

Fehr S et al.

Journal of Neurodevelopmental Disorders, 2015

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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."