Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A2
Variant:p.G166Splc
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SLC2A2

NM_000340.2:p.G166Splc

Associated Papers

Fanconi-Bickel syndrome complicated by nephrocalcinosis and GFR decline.

Baqai K et al.

Pediatric Nephrology (berlin, Germany), 2024

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

Sharari S et al.

International Journal of Molecular Sciences, 2020

Renal phosphate handling and inherited disorders of phosphate reabsorption: an update.

Wagner CA et al.

Pediatric Nephrology (berlin, Germany), 2019

Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.

Mannstadt M et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

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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."