Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.I473L
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CDKL5

NM_001323289.2:p.I473L

Associated Papers

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."