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
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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