Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.D206N
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CDKL5

NM_001323289.2:p.D206N

Associated Papers

First report of Tunisian patients with CDKL5-related encephalopathy.

Charfi Triki C et al.

Epilepsia Open, 2024

Unusual double mutation in MECP2 and CDKL5 genes in Rett-like syndrome: Correlation with phenotype and genes expression.

Jdila MB et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020

Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state.

Jdila MB et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

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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."