Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.N50fs
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CDKL5

NM_001323289.2:p.N50fs

Associated Papers

Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.

MacKay CI et al.

Clinical Genetics, 2021

There is variability in the attainment of developmental milestones in the CDKL5 disorder.

Fehr S et al.

Journal of Neurodevelopmental Disorders, 2015

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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."