Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.C152R
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CDKL5

NM_001323289.2:p.C152R

Associated Papers

CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.

Nauth T et al.

The Journal of Clinical Investigation, 2025

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

Paul SK et al.

International Journal of Molecular Sciences, 2025

CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases.

Darra F et al.

Epilepsy Research, 2023

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

Hector RD et al.

Neurology. Genetics, 2017

CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling.

Chen Q et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 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."