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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDKL5

Variant:p.K45R

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CDKL5

NM_001323289.2:p.K45R

hg38:chrX:18564511 A>G

Associated Papers

Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability.

Sampedro-Castañeda M et al.

Nature Communications, 2023

38081835 (PubMed )

Supplement: 41467_2023_43475_MOESM1_ESM.pdf

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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."