Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.L201del1
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CDKL5

NM_001323289.2:p.L201del1

Associated Papers

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.

Cavirani B et al.

International Journal of Molecular Sciences, 2024

38279250 (PubMed )
Supplement: ijms-25-01248-s001.zip › Tab_supp_S1.xlsx › Foglio1

CDKL5 Deficiency Disorder (CDD)-Rare Presentation in Male.

Rodak M et al.

Children (basel, Switzerland), 2022

Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.

Varesio C et al.

Diagnostics (basel, Switzerland), 2021

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.

Burgess R et al.

Annals of Neurology, 2019

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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."