Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.L142*
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CDKL5

NM_001323289.2:p.L142*

Associated Papers

A Novel Mouse Model Unveils Protein Deficiency in Truncated CDKL5 Mutations.

Feng X et al.

Neuroscience Bulletin, 2025

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

Katayama S et al.

Neural Plasticity, 2020

Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.

Raymond L et al.

Gene, 2013

CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.

Bahi-Buisson N et al.

Molecular Syndromology, 2012

A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.

Williamson SL et al.

Human Genetics, 2012

What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.

Kilstrup-Nielsen C et al.

Neural Plasticity, 2012

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.

Nemos C et al.

Clinical Genetics, 2009

Key clinical features to identify girls with CDKL5 mutations.

Bahi-Buisson N et al.

Brain : a Journal of Neurology, 2008

[Molecular basis of Rett syndrome: A current look].

Pantaleón F G et al.

Revista Chilena De Pediatria, 0

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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."