Varaico: Literature-Extracted Genetic Variants

Gene:STUB1
Variant:p.S216fs
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STUB1

NM_005861.4:p.S216fs

Associated Papers

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.

Ravel JM et al.

Journal of Neurology, 2021

Spinocerebellar ataxia type 48: last but not least.

De Michele G et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.

Lieto M et al.

European Journal of Neurology, 2020

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.

Sun M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."