Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.G130D
Back to variants list

SLC2A1

NM_006516.4:p.G130D

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

Role of EEG as a monitoring tool in patients with glucose transporter type I deficiency syndrome (GLUT1-DS) on ketogenic diet.

Toro-Perez J et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."