Varaico: Literature-Extracted Genetic Variants

Gene:STUB1
Variant:p.D82Y
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STUB1

NM_005861.4:p.D82Y

Associated Papers

Two more families supporting the existence of monogenic spinocerebellar ataxia 48.

Palombo F et al.

Neurogenetics, 2024

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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."