Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.Q46*
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SLC2A1

NM_006516.4:p.Q46*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Case Report: Glucose transporter 1 deficiency syndrome misdiagnosed as bacterial meningitis.

Wang M et al.

Frontiers in Pediatrics, 2025

Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.

Tayebi N et al.

Annals of Clinical and Translational Neurology, 2023

NGS in Hereditary Ataxia: When Rare Becomes Frequent.

Galatolo D et al.

International Journal of Molecular Sciences, 2021

GLUT1 deficiency syndrome into adulthood: a follow-up study.

Leen WG et al.

Journal of Neurology, 2014

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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."