Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.H160Q
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SLC2A1

NM_006516.4:p.H160Q

Associated Papers

Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome.

Ivanova N et al.

Seizure, 2018

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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."