Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.A39P
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TBC1D24

NM_001199107.2:p.A39P

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

TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

Ngoh A et al.

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

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

Balestrini S et al.

Neurology, 2016

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