Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.S80delFs
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SLC2A1

NM_006516.4:p.S80delFs

Associated Papers

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

Hu Q et al.

Frontiers in Genetics, 2021

First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene.

Fung EL et al.

Brain & Development, 2011

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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."