Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.Q216Q
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UBE3A

NM_130839.5:p.Q216Q

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

Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A.

Bercovich D et al.

Genetic Testing, 2003

Distinct phenotypes distinguish the molecular classes of Angelman syndrome.

Lossie AC et al.

Journal of Medical Genetics, 2001

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

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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."