Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.P36R
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SLC2A1

NM_006516.4:p.P36R

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

The effect of chronic neuroglycopenia on resting state networks in GLUT1 syndrome across the lifespan.

Vaudano AE et al.

Human Brain Mapping, 2020

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

Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome.

Vaudano AE et al.

Neuroimage. Clinical, 2017

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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."