Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A2
Variant:p.W420*
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SLC2A2

NM_000340.2:p.W420*

Associated Papers

Case Report: Fanconi-Bickel Syndrome in a Chinese Girl With Diabetes and Severe Hypokalemia.

Chen H et al.

Frontiers in Pediatrics, 2022

Fanconi-Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia.

Sharari S et al.

International Journal of Molecular Sciences, 2020

Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits.

Enogieru OJ et al.

Human Mutation, 2019

Fanconi-Bickel syndrome as an example of marked allelic heterogeneity.

Al-Haggar M

World Journal of Nephrology, 2012

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.

Santer R et al.

Human Genetics, 2002

Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome.

Akagi M et al.

Journal of Human Genetics, 2000

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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."