Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.L596fs
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CDKL5

NM_001323289.2:p.L596fs

Associated Papers

Clinical phenotype of 5 females with a CDKL5 mutation.

Stalpers XL et al.

Journal of Child 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."