Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.H252R
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TBC1D24

NM_001199107.2:p.H252R

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

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.

Ma J et al.

Human Genomics, 2023

36597107 (PubMed )
Supplement: 40246_2022_449_MOESM3_ESM.xlsx › Sheet1
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