Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.C199R
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CDKL5

NM_001323289.2:p.C199R

Associated Papers

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

Paul SK et al.

International Journal of Molecular Sciences, 2025

Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder.

Ivaniuk A et al.

Genetics in Medicine Open, 2024

39669599 (PubMed )
Supplement: mmc1.pdf

Analysis of trio test in neurodevelopmental disorders.

Kim SH et al.

Frontiers in Pediatrics, 2022

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

Katayama S et al.

Neural Plasticity, 2020

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."