Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A2
Variant:p.F113delFs
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SLC2A2

NM_000340.2:p.F113delFs

Associated Papers

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

Sharari S et al.

International Journal of Molecular Sciences, 2020

Fanconi-Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets.

Afroze B et al.

Journal of Pediatric Genetics, 2016

Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.

Flanagan SE et al.

Cell Metabolism, 2014

24411943 (PubMed )
Supplement: mmc1.pdf

Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia.

Habeb AM et al.

Pediatric Diabetes, 2012

SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion.

Sansbury FH et al.

Diabetologia, 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."