Varaico: Literature-Extracted Genetic Variants

Gene:TTBK2
Variant:p.G82A
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TTBK2

NM_173500.4:p.G82A

Associated Papers

Missense variant in TTBK2 kinase domain causes loss of function and impaired protein phosphorylation.

Felício D et al.

Scientific Reports, 2025

41422144 (PubMed )
Supplement: 41598_2025_32288_MOESM2_ESM.docx

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

Felício D et al.

Cerebellum (london, England), 2024

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.

Iqbal Z et al.

Plos One, 2017

Correction: Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.

Iqbal Z et al.

Plos One, 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."