Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.L835_K836insFs
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UBE3A

NM_130838.4:p.L835_K836insFs

Associated Papers

[Genetic analysis of a pedigree affected with Intellectual disability due to variants of two different genes].

Shi T et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024

An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome.

Du X et al.

Genes, 2022

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."