Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.T66delFs
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CDKL5

NM_001323289.2:p.T66delFs

Associated Papers

A Novel Mouse Model Unveils Protein Deficiency in Truncated CDKL5 Mutations.

Feng X et al.

Neuroscience Bulletin, 2025

Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy.

Gokben S et al.

Acta Neurologica Belgica, 2017

A new cause of developmental and epileptic encephalopathy with continuous spike-and-wave during sleep: CDKL5 disorder.

Arican P et al.

Neurocase, 0

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