Varaico: Literature-Extracted Genetic Variants

Gene:CUX2
Variant:p.R34W
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CUX2

NM_015267.4:p.R34W

Associated Papers

A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: Phenotypic and genotypic expansion.

Romano F et al.

European Journal of Medical Genetics, 2026

CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate.

Suzuki T et al.

Scientific Reports, 2022

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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."