Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.Y241_H252del12
Back to variants list

TBC1D24

NM_001199107.2:p.Y241_H252del12

Associated Papers

Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.

Spoto G et al.

Frontiers in Neurology, 2022

TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.

Lüthy K et al.

Brain : a Journal of Neurology, 2019

Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations.

Zhang J et al.

Seizure, 2019

Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.

Law CY et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015

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."