Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.L156R
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SLC2A1

NM_006516.4:p.L156R

Associated Papers

Glut1 Deficiency Syndrome: Novel Pathomechanisms, Current Concepts, and Challenges.

Klepper J

Journal of Inherited Metabolic Disease, 2025

Mechanistic Insights into Protein Stability and Self-aggregation in GLUT1 Genetic Variants Causing GLUT1-Deficiency Syndrome.

Raja M et al.

The Journal of Membrane Biology, 2020

The many faces of Glut1 deficiency syndrome.

Tzadok M et al.

Journal of Child Neurology, 2014

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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."