Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.L734S
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UBE3A

NM_130838.4:p.L734S

Associated Papers

Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A.

Gunelson AM et al.

Journal of Human Genetics, 2025

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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."