Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.S215R
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CDKL5

NM_001323289.2:p.S215R

Associated Papers

CDKL5 Deficiency Disorder Without Epilepsy.

Aznar-Laín G et al.

Pediatric Neurology, 2023

CDKL5 deficiency disorder: clinical features, diagnosis, and management.

Leonard H et al.

The Lancet. Neurology, 2022

Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.

MacKay CI et al.

Clinical Genetics, 2021

Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?

MacKay CI et al.

American Journal of Medical Genetics. Part A, 2020

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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."