Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.I297insFs
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SLC2A1

NM_006516.4:p.I297insFs

Associated Papers

Genetics of paroxysmal dyskinesias.

Weber YG et al.

Current Neurology and Neuroscience Reports, 2009

Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain-- a review.

Klepper J et al.

European Journal of Pediatrics, 2002

Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.

Brockmann K et al.

Annals of Neurology, 2001

Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.

Wang D et al.

Human Mutation, 2000

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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."