Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.G17R
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SLC2A1

NM_006516.4:p.G17R

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

Characterization of Speech and Language Phenotype in GLUT1DS.

Zanaboni MP et al.

Children (basel, Switzerland), 2021

Glucose and glutamine metabolism in relation to mutational status in NSCLC histological subtypes.

Meijer TWH et al.

Thoracic Cancer, 2019

31668020 (PubMed )
Supplement: TCA-10-2289-s002.xlsx › Blad1
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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."