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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDKL5

Variant:p.Y177S

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CDKL5

NM_001323289.2:p.Y177S

hg38:chrX:18584329 A>C

Associated Papers

CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants.

Paul SK et al.

International Journal of Molecular Sciences, 2025

40943322 (PubMed )

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