Varaico: Literature-Extracted Genetic Variants

Gene:STUB1
Variant:p.R175Splc
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STUB1

NM_005861.4:p.R175Splc

Associated Papers

Age-Related Alternative Splicing: Driver or Passenger in the Aging Process?

Baralle M et al.

Cells, 2023

Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia.

Nanetti L et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2023

A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in STUB1 and Exacerbated by TBP Repeat Expansions.

Reis MC et al.

Frontiers in Molecular Neuroscience, 2022

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