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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBE3A

Variant:p.E751insFs

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UBE3A

NM_130839.5:p.E751insFs

hg38:chr15:25354557 C>CTAGTT

Associated Papers

Atypical absences and recurrent absence status in an adult with Angelman syndrome due to the UBE3A mutation.

Espay AJ et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2005

16162432 (PubMed )

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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."