Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.Q452*
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CDKL5

NM_001323289.2:p.Q452*

Associated Papers

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

Brain morphological abnormalities in children with cyclin-dependent kinase-like 5 deficiency disorder.

Tang Y et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2021

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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."