Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.L222P
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TBC1D24

NM_001199107.2:p.L222P

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

Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population.

Turkdogan D et al.

The International Journal of Neuroscience, 2023

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