Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.S215_Q216insFs
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UBE3A

NM_130839.5:p.S215_Q216insFs

Associated Papers

A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree.

Abaied L et al.

American Journal of Medical Genetics. Part A, 2010

Gene symbol: UBE3A. Disease: Angelman syndrome.

Mueller OT et al.

Human Genetics, 2008

Gene symbol: UBE3A. Disease: Angelman syndrome.

Mueller OT et al.

Human Genetics, 2008

Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome.

Russo S et al.

Human Mutation, 2000

The spectrum of mutations in UBE3A causing Angelman syndrome.

Fang P et al.

Human Molecular Genetics, 1999

Mutation analysis of UBE3A in Angelman syndrome patients.

Malzac P et al.

American Journal of Human Genetics, 1998

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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."