Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.V69M
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SLC2A1

NM_006516.4:p.V69M

Associated Papers

New variants expand the neurological phenotype of COQ7 deficiency.

Fabra MA et al.

Journal of Inherited Metabolic Disease, 2024

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

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Møller RS et al.

Neurology, 2017

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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."