Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.M63fs
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CDKL5

NM_001323289.2:p.M63fs

Associated Papers

The natural history of CDKL5 deficiency disorder into adulthood.

Aledo-Serrano A et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

CDKL5 Deficiency Disorder Without Epilepsy.

Aznar-Laín G et al.

Pediatric Neurology, 2023

Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?

MacKay CI et al.

American Journal of Medical Genetics. Part A, 2020

Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder.

Fehr S et al.

Neurology, 2016

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."