Varaico: Literature-Extracted Genetic Variants

Gene:STUB1
Variant:p.R154C
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STUB1

NM_005861.4:p.R154C

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

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.

Roux T et al.

Genetics in Medicine : Official Journal of the American College of Medical 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."