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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBE3A

Variant:p.S548insFs

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UBE3A

NM_130838.4:p.S548insFs

hg38:chr15:25360433 G>GA

Associated Papers

Mutation Update for UBE3A variants in Angelman syndrome.

Sadikovic B et al.

Human Mutation, 2014

25212744 (PubMed )

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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."