Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.P835delFs
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CDKL5

NM_001323289.2:p.P835delFs

Associated Papers

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

Feng X et al.

Neuroscience Bulletin, 2025

Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder.

Fehr S et al.

Neurology, 2016

There is variability in the attainment of developmental milestones in the CDKL5 disorder.

Fehr S et al.

Journal of Neurodevelopmental Disorders, 2015

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

Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.

White R et al.

Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2010

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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."