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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDKL5

Variant:p.T56delFs

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CDKL5

NM_001323289.2:p.T56delFs

hg38:chrX:18575374 ACG>A

Associated Papers

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

Trump N et al.

Journal of Medical Genetics, 2016

26993267 (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."