Varaico: Literature-Extracted Genetic Variants

Gene:STUB1
Variant:p.K223_K224Splc
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STUB1

NM_005861.4:p.K223_K224Splc

Associated Papers

Case Series of Cerebellar Ataxia with Tremor Due to Heterozygous STUB1 Variants (SCA48) without TBP Expansions: Further Evidence for SCA48 as a Monogenic Disease.

Zochowski Y et al.

Cerebellum (london, England), 2024

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