Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.D153V
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CDKL5

NM_001323289.2:p.D153V

Associated Papers

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

Paul SK et al.

International Journal of Molecular Sciences, 2025

Analysis of X-inactivation status in a Rett syndrome natural history study cohort.

Fang X et al.

Molecular Genetics & Genomic Medicine, 2022

35318820 (PubMed )
Supplement: MGG3-10-e1917-s003.xlsx › Sheet1

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

Katayama S et al.

Neural Plasticity, 2020

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.

Olson HE et al.

Pediatric Neurology, 2019

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

Fehr S et al.

Journal of Neurodevelopmental Disorders, 2015

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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."