Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.D206Y
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CDKL5

NM_001323289.2:p.D206Y

Associated Papers

Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease.

de Castro MJ et al.

Journal of Clinical Medicine, 2020

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.

Fernández-Marmiesse A et al.

Frontiers in Neuroscience, 2019

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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."