Varaico: Literature-Extracted Genetic Variants

Gene:CPLX1
Variant:p.E2K
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CPLX1

NM_006651.4:p.E2K

Associated Papers

Generation of iPSC lines (KAIMRCi003A, KAIMRCi003B) from a Saudi patient with Dravet syndrome carrying homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A.

Alowaysi M et al.

Human Cell, 2024

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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."