Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.N34Y
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SLC2A1

NM_006516.4:p.N34Y

Associated Papers

The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.

Mastrangelo M et al.

European Journal of Pediatrics, 2024

38954008 (PubMed )
Supplement: 431_2024_5657_MOESM2_ESM.xlsx › Valutazione_varianti

Development of a rapid functional assay that predicts GLUT1 disease severity.

Zaman SM et al.

Neurology. Genetics, 2018

Crystal structure of the human glucose transporter GLUT1.

Deng D et al.

Nature, 2014

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

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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."