Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.H467P
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CDKL5

NM_001323289.2:p.H467P

Associated Papers

Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase.

Muñoz IM et al.

The Embo Journal, 2018

CDKL5 alterations lead to early epileptic encephalopathy in both genders.

Liang JS et al.

Epilepsia, 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."