Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.T137I
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SLC2A1

NM_006516.4:p.T137I

Associated Papers

Ketogenic diet therapy in children with epilepsy caused by SLC2A1 mutations: a single-center single-arm retrospective study.

Wang YY et al.

World Journal of Pediatrics : Wjp, 2024

Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort.

Yao R et al.

Frontiers in Genetics, 2021

34992632 (PubMed )
Supplement: Table3.XLSX › Sheet1

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

Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants.

Pascual JM et al.

The Journal of Biological Chemistry, 2008

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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."