Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.R333L
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SLC2A1

NM_006516.4:p.R333L

Associated Papers

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.

Stagnaro M et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018

Molecular Dynamics Simulations of the Human Glucose Transporter GLUT1.

Park MS

Plos One, 2015

Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M.

Wang D et al.

Pediatric Research, 2008

Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants.

Pascual JM et al.

The Journal of Biological Chemistry, 2008

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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."