Varaico: Literature-Extracted Genetic Variants

Gene:CELF2
Variant:p.R506C
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CELF2

NM_001326342.2:p.R506C

Associated Papers

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

MacPherson MJ et al.

Cell Reports, 2021

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."