Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.V579M
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UBE3A

NM_000462.5:p.V579M

Associated Papers

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.

Della Mina E et al.

European Journal of Human Genetics : Ejhg, 2015

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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."