Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.Y171*
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CDKL5

NM_001323289.2:p.Y171*

Associated Papers

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

Rodak M et al.

Children (basel, Switzerland), 2022

Analysis of X-inactivation status in a Rett syndrome natural history study cohort.

Fang X et al.

Molecular Genetics & Genomic Medicine, 2022

35318820 (PubMed )
Supplement: MGG3-10-e1917-s003.xlsx › Sheet1

Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder.

Katayama S et al.

Neural Plasticity, 2020

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

Mirzaa GM et al.

Pediatric Neurology, 2013

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

MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.

Kerr M et al.

Molecular Genetics and Metabolism, 0

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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."