Associated Papers
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor.
Schoeler NE et al.
Developmental Medicine and Child Neurology, 2015
Focal epilepsy in glucose transporter type 1 (Glut1) defects: case reports and a review of literature.
Wolking S et al.
Journal of Neurology, 2014
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