Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A2
Variant:p.W444R
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SLC2A2

NM_000340.2:p.W444R

Associated Papers

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: Two Pakistani Patients Presenting with Hypophosphatemic Rickets.

Afroze B et al.

Journal of Pediatric Genetics, 2016

Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.

Yang Y et al.

Endocrine Reviews, 2016

Fanconi-Bickel syndrome - mutation in SLC2A2 gene.

Kehar M et al.

Indian Journal of Pediatrics, 2014

Mutations in SLC2A2 gene reveal hGLUT2 function in pancreatic β cell development.

Michau A et al.

The Journal of Biological Chemistry, 2013

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

Santer R et al.

Human Genetics, 2002

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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."