Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.W65R
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SLC2A1

NM_006516.4:p.W65R

Associated Papers

Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.

Mochel F et al.

Neurology, 2023

Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.

Tayebi N et al.

Annals of Clinical and Translational Neurology, 2023

Functional Expression of the Human Glucose Transporters GLUT2 and GLUT3 in Yeast Offers Novel Screening Systems for GLUT-Targeting Drugs.

Schmidl S et al.

Frontiers in Molecular Biosciences, 2020

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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."