Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.E146D
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SLC2A1

NM_006516.4:p.E146D

Associated Papers

CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome.

Barca E et al.

Jimd Reports, 2016

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

Wang D et al.

Pediatric Research, 2008

Role of conserved arginine and glutamate residues on the cytosolic surface of glucose transporters for transporter function.

Schürmann A et al.

Biochemistry, 1997

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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."