Varaico: Literature-Extracted Genetic Variants

Gene:STUB1
Variant:p.F37L
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STUB1

NM_005861.4:p.F37L

Associated Papers

Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient.

Saito R et al.

Acta Neuropathologica Communications, 2022

36476347 (PubMed )
Supplement: 40478_2022_1486_MOESM1_ESM.pdf

C-terminus of Hsp70 Interacting Protein (CHIP) and Neurodegeneration: Lessons from the Bench and Bedside.

Mylvaganam S et al.

Current Neuropharmacology, 2021

Mutations in Hsp90 Cochaperones Result in a Wide Variety of Human Disorders.

Johnson JL

Frontiers in Molecular Biosciences, 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

Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization.

Chen DH et al.

Neurology. Genetics, 2020

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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."