Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.L204S
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UBE3A

NM_130838.4:p.L204S

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

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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."