Varaico: Literature-Extracted Genetic Variants

Gene:TGM6
Variant:p.L502Q
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TGM6

NM_198994.3:p.L502Q

Associated Papers

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

Manini A et al.

Bmc Neurology, 2020

Mutations in TGM6 induce the unfolded protein response in SCA35.

Tripathy D et al.

Human Molecular Genetics, 2017

Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients.

Hadjivassiliou M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

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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."