Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.C133delins
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SLC2A1

NM_006516.4:p.C133delins

Associated Papers

Exploring ketogenic diet resistance in glucose transporter type 1 deficiency syndrome: A comprehensive review and critical appraisal.

Falsaperla R et al.

Epilepsia Open, 2025

The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.

Mastrangelo M et al.

European Journal of Pediatrics, 2024

38954008 (PubMed )
Supplement: 431_2024_5657_MOESM2_ESM.xlsx › Valutazione_varianti

Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome.

Logel SN et al.

Annals of Clinical and Translational Neurology, 2021

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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."