Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.Y384*
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CDKL5

NM_001323289.2:p.Y384*

Associated Papers

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

Feng X et al.

Neuroscience Bulletin, 2025

Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.

Xiong J et al.

Frontiers in Neuroscience, 2019

31031587 (PubMed )
Supplement: Table_1.XLSX › no_ASD_group

Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

Butler KM et al.

Pediatric Neurology, 2017

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