Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.Y177C
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CDKL5

NM_001323289.2:p.Y177C

Associated Papers

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

Paul SK et al.

International Journal of Molecular Sciences, 2025

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

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

Hector RD et al.

Neurology. Genetics, 2017

A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome.

Christianto A et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 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."