Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.R333G
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SLC2A1

NM_006516.4:p.R333G

Associated Papers

Disease-associated Glut1 single amino acid substitute mutations S66F, R126C, and T295M constitute Glut1-deficiency states in vitro.

Wong HY et al.

Molecular Genetics and Metabolism, 2007

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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."