Varaico: Literature-Extracted Genetic Variants

Gene:TTBK2
Variant:p.E842G
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TTBK2

NM_173500.4:p.E842G

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › SPK9_het

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

Felício D et al.

Cerebellum (london, England), 2024

Spinocerebellar ataxia type 11 (SCA11): An update.

Gong Z et al.

The European Journal of Neuroscience, 2023

Genetic variants associated with diseases in Afghan population.

Zadran SK et al.

Molecular Genetics & Genomic Medicine, 2021

33486863 (PubMed )
Supplement: MGG3-9-e1608-s001.xlsx › Sheet1

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

Missense exchanges in the TTBK2 gene mutated in SCA11.

Edener U et al.

Journal of Neurology, 2009

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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."