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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TTBK2

Variant:p.E864E

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TTBK2

NM_173500.4:p.E864E

hg38:chr15:42752654 T>C

Associated Papers

Spinocerebellar ataxia type 11 (SCA11): An update.

Gong Z et al.

The European Journal of Neuroscience, 2023

37329117 (PubMed )

Missense exchanges in the TTBK2 gene mutated in SCA11.

Edener U et al.

Journal of Neurology, 2009

19533200 (PubMed )

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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."