Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.S473fs
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TBC1D24

NM_001199107.2:p.S473fs

Associated Papers

Crystal structure of the TLDc domain of human NCOA7-AS.

Arnaud-Arnould M et al.

Acta Crystallographica. Section F, Structural Biology Communications, 2021

TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.

Lüthy K et al.

Brain : a Journal of Neurology, 2019

The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.

Tona R et al.

Human Molecular Genetics, 2019

Novel TBC1D24 Mutations in a Case of Nonconvulsive Status Epilepticus.

Li J et al.

Frontiers in Neurology, 2018

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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."