Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.N399T
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CDKL5

NM_001323289.2:p.N399T

Associated Papers

CDKL5 kinase controls transcription-coupled responses to DNA damage.

Khanam T et al.

The Embo Journal, 2021

Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase.

Muñoz IM et al.

The Embo Journal, 2018

CDKL5 variants: Improving our understanding of a rare neurologic disorder.

Hector RD et al.

Neurology. Genetics, 2017

CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.

Bahi-Buisson N et al.

Molecular Syndromology, 2012

A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.

Sprovieri T et al.

American Journal of Medical Genetics. Part A, 2009

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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."