Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.N255insFs
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UBE3A

NM_130839.5:p.N255insFs

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

Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria.

Baumer A et al.

Human 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."