Varaico: Literature-Extracted Genetic Variants

Gene:IRF2BPL
Variant:p.Q249*
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IRF2BPL

NM_024496.4:p.Q249*

Associated Papers

Late-Onset Ataxia, Chorea, Cognitive Impairment, and Insomnia: Expanding the Phenotype of IRF2BPL-Related Disease.

Alatrash S et al.

Journal of Movement Disorders, 2025

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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."