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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBE3A

Variant:p.C49*

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UBE3A

NM_000462.5:p.C49*

hg38:chr15:25375688 G>T

Associated Papers

G2E3 is a dual function ubiquitin ligase required for early embryonic development.

Brooks WS et al.

The Journal of Biological Chemistry, 2008

18511420 (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."