Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.A173P
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CDKL5

NM_001323289.2:p.A173P

Associated Papers

Developmental and Epileptic Encephalopathy due to Cyclin-Dependent Kinase-Like 5 Deficiency: A Single-Center Experience Across Sex Differences.

Fasaludeen A et al.

Pediatric Neurology, 2026

Clinical and Genetic Profile of Autism Spectrum Disorder-Epilepsy (ASD-E) Phenotype: Two Sides of the Same Coin!

Karunakaran S et al.

Clinical Eeg and Neuroscience, 2020

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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."