Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A2
Variant:p.E66*
Back to variants list

SLC2A2

NM_000340.2:p.E66*

Associated Papers

Fanconi-Bickel syndrome in an infant with cytomegalovirus infection: A case report and review of the literature.

Xiong LJ et al.

World Journal of Clinical Cases, 2020

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."