Varaico: Literature-Extracted Genetic Variants

Gene:TTBK2
Variant:p.T402_E403Fs
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TTBK2

NM_173500.4:p.T402_E403Fs

Associated Papers

A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11.

Lu YQ et al.

Cerebellum (london, England), 2024

Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms.

Felício D et al.

Cerebellum (london, England), 2024

First finding of familial spinal cerebellar Ataxia11 in China: clinical, imaging and genetic features.

Deng Y et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020

A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia.

Lindquist SG et al.

Cerebellum (london, England), 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."