Varaico: Literature-Extracted Genetic Variants

Gene:TRAK1
Variant:p.L329P
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TRAK1

NM_001042646.3:p.L329P

Associated Papers

Role of TRAK1 variants in epilepsy: genotype-phenotype analysis in a pediatric case of epilepsy with developmental disorder.

Li RK et al.

Frontiers in Molecular Neuroscience, 2024

Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus.

Sagie S et al.

Brain : a Journal of Neurology, 2018

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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."