Varaico: Literature-Extracted Genetic Variants

Gene:SMG1
Variant:p.A5D
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SMG1

NM_015092.5:p.A5D

Associated Papers

The p97-Ataxin 3 complex regulates homeostasis of the DNA damage response E3 ubiquitin ligase RNF8.

Singh AN et al.

The Embo Journal, 2019

The Machado-Joseph Disease Deubiquitinase Ataxin-3 Regulates the Stability and Apoptotic Function of p53.

Liu H et al.

Plos Biology, 2016

27851749 (PubMed )
Supplement: pbio.2000733.s008.xls › Fig5B
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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."