Varaico: Literature-Extracted Genetic Variants

Gene:SI
Variant:p.G92fs
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SI

NM_001041.4:p.G92fs

Associated Papers

Genetic Features of Lipid and Carbohydrate Metabolism in Arctic Peoples.

Malyarchuk BA

Biochemistry. Biokhimiia, 2024

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

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

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."