Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.Q865*
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CDKL5

NM_001323289.2:p.Q865*

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

CDKL5 Deficiency Disorder (CDD)-Rare Presentation in Male.

Rodak M et al.

Children (basel, Switzerland), 2022

Aminoglycoside drugs induce efficient read-through of CDKL5 nonsense mutations, slightly restoring its kinase activity.

Fazzari M et al.

Rna Biology, 2019

CDKL5 and ARX mutations in males with early-onset epilepsy.

Mirzaa GM et al.

Pediatric Neurology, 2013

Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations.

Moseley BD et al.

Pediatric Neurology, 2012

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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."