Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.S285del1
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SLC2A1

NM_006516.4:p.S285del1

Associated Papers

Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).

Pearson TS et al.

Current Neurology and Neuroscience Reports, 2013

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.

Weber YG et al.

The Journal of Clinical Investigation, 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."