Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.T9M
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SLC2A1

NM_006516.4:p.T9M

Associated Papers

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.

Barcia G et al.

Epilepsia Open, 2025

40347095 (PubMed )
Supplement: EPI4-10-1065-s001.xlsx › Targeted_NGS

From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice.

De Wachter M et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024

Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases.

Olivotto S et al.

Orphanet Journal of Rare Diseases, 2022

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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."