Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.Q219K
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CDKL5

NM_001323289.2:p.Q219K

Associated Papers

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

Paul SK et al.

International Journal of Molecular Sciences, 2025

Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort.

Akter H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

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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."