Varaico: Literature-Extracted Genetic Variants

Gene:TTBK2
Variant:p.R944Q
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TTBK2

NM_173500.4:p.R944Q

Associated Papers

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

Felício D et al.

Cerebellum (london, England), 2024

The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.

Jiao Q et al.

Clinical Genetics, 2019

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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."