Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.L263_F264del2
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UBE3A

NM_130838.4:p.L263_F264del2

Associated Papers

Impact of Deletion on Angelman Syndrome Phenotype Variability: Phenotype-Genotype Correlation in 97 Patients with Motor Developmental Delay.

Belghiti HD et al.

Journal of Pediatric Genetics, 2024

Mutation Update for UBE3A variants in Angelman syndrome.

Sadikovic B et al.

Human Mutation, 2014

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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."