Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.R505*
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UBE3A

NM_000462.5:p.R505*

Associated Papers

Identification of the genetic basis of pediatric neurogenetic disorders at a tertiary referral hospital in Indonesia: Contribution of whole exome sequencing.

Triono A et al.

Plos One, 2023

Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting.

Villela D et al.

European Journal 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."