Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.G18R
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SLC2A1

NM_006516.4:p.G18R

Associated Papers

Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.

Bar O et al.

Frontiers in Neurology, 2023

37234784 (PubMed )
Supplement: Table_1.XLSX › Supplemantary_Table_1

A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.

Gras D et al.

Annals of Neurology, 2017

The Influence of Na(+), K(+)-ATPase on Glutamate Signaling in Neurodegenerative Diseases and Senescence.

Kinoshita PF et al.

Frontiers in Physiology, 2016

The clinical and genetic heterogeneity of paroxysmal dyskinesias.

Gardiner AR et al.

Brain : a Journal of Neurology, 2015

A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood.

Weller CM et al.

Cephalalgia : an International Journal of Headache, 2015

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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."