Varaico: Literature-Extracted Genetic Variants

Gene:STUB1
Variant:p.Y207*
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STUB1

NM_005861.4:p.Y207*

Associated Papers

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

Mylvaganam S et al.

Current Neuropharmacology, 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

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1.

Bettencourt C et al.

Cerebellum (london, England), 2015

Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxias.

Ronnebaum SM et al.

Human Genome Variation, 2014

Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.

Shi Y et al.

Plos One, 2013

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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."