Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.N337del1
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UBE3A

NM_130838.4:p.N337del1

Associated Papers

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.

Geerts-Haages A et al.

Molecular Genetics & Genomic Medicine, 2020

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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."