Varaico: Literature-Extracted Genetic Variants

Gene:STUB1
Variant:p.K145E
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STUB1

NM_005861.4:p.K145E

Associated Papers

AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia.

Sabbagh Q et al.

Journal of Neurology, 2025

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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."