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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBC1D24

Variant:p.R242H

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TBC1D24

NM_001199107.2:p.R242H

hg38:chr16:2496873 G>A

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 genotype-phenotype correlation: Epilepsies and other neurologic features.

Balestrini S et al.

Neurology, 2016

27281533 (PubMed )

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