Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.L855_K856insFs
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UBE3A

NM_130839.5:p.L855_K856insFs

Associated Papers

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

Baldridge D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

Mutation Update for UBE3A variants in Angelman syndrome.

Sadikovic B et al.

Human Mutation, 2014

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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."