Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.G76A
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SLC2A1

NM_006516.4:p.G76A

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

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J et al.

Genome Research, 2017

28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1

Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.

Ito Y et al.

Brain & Development, 2015

Single-strand conformation polymorphism analysis of the glucose transporter gene GLUT1 in maturity-onset diabetes of the young.

Baroni MG et al.

Journal of Molecular Medicine (berlin, Germany), 2001

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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."