Varaico: Literature-Extracted Genetic Variants

Gene:TTBK2
Variant:p.S428_E429delFs
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TTBK2

NM_173500.4:p.S428_E429delFs

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

TTBK2 mutations associated with spinocerebellar ataxia type 11 disrupt peroxisome dynamics and ciliary localization of SHH signaling proteins.

Muñoz-Estrada J et al.

Biorxiv : the Preprint Server for Biology, 2023

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

Past, present and future therapeutics for cerebellar ataxias.

Marmolino D et al.

Current Neuropharmacology, 2010

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."