Varaico: Literature-Extracted Genetic Variants

Gene:U2AF2
Variant:p.R149Q
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U2AF2

NM_007279.3:p.R149Q

Associated Papers

U2AF2 Missense Variant Associated With Epilepsy and Systemic Dysmorphism: Report of Two Cases and Literature Review.

Huang S et al.

Clinical Case Reports, 2025

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Li D et al.

The Journal of Clinical Investigation, 2024

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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."