Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.R227G
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TBC1D24

NM_001199107.2:p.R227G

Associated Papers

The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.

Tona R et al.

Human Molecular Genetics, 2019

TBC1D24 gene mutations are associated with high risk of sudden unexpected death.

Trivisano M et al.

Epilepsy & Behavior : E&b, 2017

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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."