Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.S202L
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TBC1D24

NM_001199107.2:p.S202L

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

Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.

Forny P et al.

Neurology. Genetics, 2021

Genetic updates on paroxysmal dyskinesias.

Liao JY et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2021

Biallelic mutations of TBC1D24 in exercise-induced paroxysmal dystonia.

Steel D et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

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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."