Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.P314H
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UBE3A

NM_130839.5:p.P314H

Associated Papers

Presynaptic Ube3a E3 ligase promotes synapse elimination through down-regulation of BMP signaling.

Furusawa K et al.

Science (new York, N.y.), 2023

Angelman Syndrome Protein Ube3a Regulates Synaptic Growth and Endocytosis by Inhibiting BMP Signaling in Drosophila.

Li W et al.

Plos Genetics, 2016

A Drosophila model for Angelman syndrome.

Wu Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2008

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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."