Varaico: Literature-Extracted Genetic Variants

Gene:CDKL1
Variant:p.K34R
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CDKL1

NM_004196.7:p.K34R

Associated Papers

CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.

Nauth T et al.

The Journal of Clinical Investigation, 2025

Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase.

Muñoz IM et al.

The Embo Journal, 2018

30266825 (PubMed )
Supplement: EMBJ-37-e99559-s003.xlsx › Plasmids_CDKL5
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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."