Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.K529N
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ATXN1

NM_001128164.2:p.K529N

Associated Papers

Intranuclear inclusions of polyQ-expanded ATXN1 sequester RNA molecules.

Gkekas I et al.

Frontiers in Molecular Neuroscience, 2023

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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."