Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.K256*
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SLC2A1

NM_006516.4:p.K256*

Associated Papers

Genotype-driven therapeutics in DEE and metabolic epilepsy: navigating treatment efficacy and drug resistance.

Nguyen YTM et al.

Scientific Reports, 2024

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.

Cavirani B et al.

International Journal of Molecular Sciences, 2024

38279250 (PubMed )
Supplement: ijms-25-01248-s001.zip › Tab_supp_S1.xlsx › Foglio1
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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."