Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.R60P
Back to variants list

TBC1D24

NM_001199107.2:p.R60P

Associated Papers

Genetic Diversity in Early Infantile Epileptic Encephalopathy: A Three-Year Cohort Study.

Torbati PN et al.

Pediatric Neurology, 2026

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

Exploring the genetic etiology of drug-resistant epilepsy: incorporation of exome sequencing into practice.

Mahdiannasser M et al.

Acta Neurologica Belgica, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."