Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.T182delFs
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TBC1D24

NM_001199107.2:p.T182delFs

Associated Papers

Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants.

Tona R et al.

The Journal of Biological Chemistry, 2024

39214300 (PubMed )
Supplement: mmc1.docx

Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review.

Cordani R et al.

Neuropediatrics, 2022

TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

Ngoh A et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2017

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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."