Varaico: Literature-Extracted Genetic Variants

Gene:U2AF2
Variant:p.E201D
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U2AF2

NM_007279.3:p.E201D

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

U2AF2 variant in a patient with developmental delay, dysmorphic features, and epilepsy.

Kittock CM et al.

American Journal of Medical Genetics. Part A, 2023

A presumed missense variant in the U2AF2 gene causes exon skipping in neurodevelopmental diseases.

Wang X et al.

Journal of Human Genetics, 2023

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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."