Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.L299_E300insFs
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UBE3A

NM_130839.5:p.L299_E300insFs

Associated Papers

A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree.

Abaied L et al.

American Journal of Medical Genetics. Part A, 2010

UBE3A gene mutations in Finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis.

Rapakko K et al.

American Journal of Medical Genetics. Part A, 2004

Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome.

Russo S et al.

Human Mutation, 2000

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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."