Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A2
Variant:p.V423E
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SLC2A2

NM_000340.2:p.V423E

Associated Papers

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

Sharari S et al.

International Journal of Molecular Sciences, 2020

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

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

Enogieru OJ et al.

Human Mutation, 2019

Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering.

Al-Haggar M et al.

Clinical and Experimental Nephrology, 2012

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

Al-Haggar M

World Journal of Nephrology, 2012

Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families.

Al-Haggar M et al.

Case Reports in Nephrology, 2011

[Fanconi-Bickel syndrome].

Sakamoto O et al.

Ryoikibetsu Shokogun Shirizu, 2001

Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.

Sakamoto O et al.

Pediatric Research, 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."