Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.S586delFs
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CDKL5

NM_001323289.2:p.S586delFs

Associated Papers

Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy.

Záhoráková D et al.

Folia Biologica, 2016

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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."