Varaico: Literature-Extracted Genetic Variants

Gene:STUB1
Variant:p.R241G
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STUB1

NM_005861.4:p.R241G

Associated Papers

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

Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan.

Chiu HH et al.

Cerebellum (london, England), 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."