Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.W195R
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CDKL5

NM_001323289.2:p.W195R

Associated Papers

Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase.

Muñoz IM et al.

The Embo Journal, 2018

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J et al.

Genome Research, 2017

28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1

What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.

Kilstrup-Nielsen C et al.

Neural Plasticity, 2012

Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life.

Sartori S et al.

Journal of Child Neurology, 2011

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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."