Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.N50delFs
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CDKL5

NM_001323289.2:p.N50delFs

Associated Papers

Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy.

Ben Said M et al.

Epilepsia Open, 2024

First report of Tunisian patients with CDKL5-related encephalopathy.

Charfi Triki C et al.

Epilepsia Open, 2024

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