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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDKL5

Variant:p.K33_E34Splc

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CDKL5

NM_001323289.2:p.K33_E34Splc

hg38:chrX:18564476 G>A

Associated Papers

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.

Musante L et al.

Genes, 2022

35328054 (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."