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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC2A1

Variant:p.L124_R126del3

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SLC2A1

NM_006516.4:p.L124_R126del3

hg38:chr1:42930763 AGCGGCCCAG>A

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

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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."