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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC2A1

Variant:p.R264insFs

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SLC2A1

NM_006516.4:p.R264insFs

hg38:chr1:42929669 C>CG

Associated Papers

GLUT1 deficiency syndrome into adulthood: a follow-up study.

Leen WG et al.

Journal of Neurology, 2014

24413642 (PubMed )

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

Leen WG et al.

Brain : a Journal of Neurology, 2010

20129935 (PubMed )

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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."