Varaico: Literature-Extracted Genetic Variants

Gene:SI
Variant:p.R91_G92delFs
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SI

NM_001041.4:p.R91_G92delFs

Associated Papers

Genetic architecture in Greenland is shaped by demography, structure and selection.

Stæger FF et al.

Nature, 2025

39939757 (PubMed )
Supplement: 41586_2024_8516_MOESM3_ESM.pdf

Impaired digestive function of sucrase-isomaltase in a complex with the Greenlandic sucrase-isomaltase variant.

Tannous S et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024

Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function.

Andersen K et al.

The Application of Clinical Genetics, 2024

[Genetics of sucrose metabolism disorders in different population groups].

Kozlov AI et al.

Voprosy Pitaniia, 2024

The effect of sucrase-isomaltase deficiency on metabolism, food intake and preferences: protocol for a dietary intervention study.

Senftleber NK et al.

International Journal of Circumpolar Health, 2023

Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives.

Senftleber NK et al.

The Application of Clinical Genetics, 2023

Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic.

Duncan CJA et al.

The Journal of Experimental Medicine, 2022

Loss of Sucrase-Isomaltase Function Increases Acetate Levels and Improves Metabolic Health in Greenlandic Cohorts.

Andersen MK et al.

Gastroenterology, 2022

Genetic Variation in Sugar Metabolism Confers a Protective Metabolic Profile.

Le J et al.

Gastroenterology, 2022

Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China.

Zhou J et al.

Frontiers in Pediatrics, 2021

Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.

Marcadier JL et al.

Cmaj : Canadian Medical Association Journal = Journal De L'association Medicale Canadienne, 2015

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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."