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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDKL5

Variant:p.T562_R563delFs

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CDKL5

NM_001323289.2:p.T562_R563delFs

hg38:chrX:18604605 ACAAC>A

Associated Papers

CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases.

Darra F et al.

Epilepsy Research, 2023

36739728 (PubMed )

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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."