Varaico: Literature-Extracted Genetic Variants

Gene:TGM6
Variant:p.G3Splc
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TGM6

NM_198994.3:p.G3Splc

Associated Papers

TGM6 might not be a specific causative gene for spinocerebellar ataxia resulting from genetic analysis and functional study.

Cheng HL et al.

Gene, 2021

A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.

Manini A et al.

Bmc Neurology, 2020

TGM6 variants in Parkinson's disease: clinical findings and functional evidence.

Chen K et al.

Journal of Integrative Neuroscience, 2020

A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35.

Fung JLF et al.

Parkinsonism & Related Disorders, 2019

Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation.

Lin CC et al.

Cerebellum (london, England), 2019

TGM6 gene mutations in undiagnosed cerebellar ataxia patients.

Yang ZH et al.

Parkinsonism & Related Disorders, 2018

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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."