Varaico: Literature-Extracted Genetic Variants

Gene:CELF2
Variant:p.R493H
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CELF2

NM_001025077.3:p.R493H

Associated Papers

Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.

Hua M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation.

Hua M et al.

Stem Cell Research, 2024

Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates.

MacPherson MJ et al.

Cell Reports, 2021

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