Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.R858C
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CDKL5

NM_001323289.2:p.R858C

Associated Papers

Cardiac arrhythmia and epilepsy genetic variants in sudden unexpected death in epilepsy.

Aschner A et al.

Frontiers in Neurology, 2024

Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase.

Muñoz IM et al.

The Embo Journal, 2018

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Carvill GL et al.

Nature Genetics, 2013

23708187 (PubMed )
Supplement: NIHMS474984-supplement-1.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."