Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.L227P
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CDKL5

NM_001323289.2:p.L227P

Associated Papers

Navigating Uncertainty: Assessing Variants of Uncertain Significance in the CDKL5 Gene for Developmental and Epileptic Encephalopathy Using In Silico Prediction Tools and Computational Analysis.

Yalçın Çapan Ö

Journal of Molecular Neuroscience : Mn, 2025

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

Fehr S et al.

Journal of Neurodevelopmental Disorders, 2015

Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy.

Yamamoto T et al.

Human Genome Variation, 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."