Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.G538A
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UBE3A

NM_130838.4:p.G538A

Associated Papers

Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations.

Bossuyt SNV et al.

Human Molecular Genetics, 2021

An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A.

Yi JJ et al.

Cell, 2015

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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."