Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.L522V
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CDKL5

NM_001323289.2:p.L522V

Associated Papers

VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.

Ohno S et al.

Computational and Structural Biotechnology Journal, 2025

40160862 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.

Kluckova D et al.

Epilepsy Research, 2021

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