Varaico: Literature-Extracted Genetic Variants

Gene:ATXN3
Variant:p.C14S
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ATXN3

NM_004993.6:p.C14S

Associated Papers

The Machado-Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability.

Durcan TM et al.

Human Molecular Genetics, 2011

Structural and functional analysis of the Josephin domain of the polyglutamine protein ataxin-3.

Chow MK et al.

Biochemical and Biophysical Research Communications, 2004

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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."