Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.E247K
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SLC2A1

NM_006516.4:p.E247K

Associated Papers

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.

Barcia G et al.

Epilepsia Open, 2025

40347095 (PubMed )
Supplement: EPI4-10-1065-s001.xlsx › Targeted_NGS

Clinical and Genetic Characteristics of Chinese Children With GLUT1 Deficiency Syndrome: Case Report and Literature Review.

Hu Q et al.

Frontiers in Genetics, 2021

Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia.

Chen Y et al.

Frontiers in Pediatrics, 2020

[Clinical and genetic characteristics of glucose transporter type 1 deficiency syndrome].

Liu YY et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013

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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."