Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.P835fs
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CDKL5

NM_001323289.2:p.P835fs

Associated Papers

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

Bahi-Buisson N et al.

Molecular Syndromology, 2012

A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.

Williamson SL et al.

Human Genetics, 2012

Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.

White R et al.

Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2010

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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."