Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.F727L
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UBE3A

NM_130839.5:p.F727L

Associated Papers

Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.

Wang T et al.

Computational and Structural Biotechnology Journal, 2023

38213898 (PubMed )
Supplement: mmc2.xlsx › RIVs_in_VARGs

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

33607653 (PubMed )
Supplement: bossuyt-hmg-2021-d-00033-supplemental_data-final_ddab050.zip › Bossuyt-HMG-2021-D-00033-Supplemental_data-final_ddab050.pdf
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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."