Varaico: Literature-Extracted Genetic Variants

Gene:CELF2
Variant:p.R506G
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CELF2

NM_001326342.2:p.R506G

Associated Papers

Modeling epilepsy by loss-of-function of the CUG-binding protein Elav-like family member 2 in zebrafish with multi-omics analysis.

Wang X et al.

Chinese Medical Journal, 2026

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.

Itai T et al.

Human Mutation, 2021

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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."