Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.G213R
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CDKL5

NM_001323289.2:p.G213R

Associated Papers

CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants.

Paul SK et al.

International Journal of Molecular Sciences, 2025

Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase.

Muñoz IM et al.

The Embo Journal, 2018

CDKL5 variants: Improving our understanding of a rare neurologic disorder.

Hector RD et al.

Neurology. Genetics, 2017

Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients.

Lim Z et al.

Epilepsia, 2017

Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy.

Záhoráková D et al.

Folia Biologica, 2016

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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."