Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.G83V
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CDKL5

NM_001323289.2:p.G83V

Associated Papers

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

Paul SK et al.

International Journal of Molecular Sciences, 2025

Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.

Nagarajan B et al.

Epilepsia Open, 2023

Comprehensive In Silico Functional Prediction Analysis of CDKL5 by Single Amino Acid Substitution in the Catalytic Domain.

Yoshimura Y et al.

International Journal of Molecular Sciences, 2022

36293137 (PubMed )
Supplement: ijms-23-12281-s001.zip › ijms-1934913-supplementary.pdf

Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder.

Katayama S et al.

Neural Plasticity, 2020

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

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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."