Varaico: Literature-Extracted Genetic Variants

Gene:SI
Variant:p.E640G
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SI

NM_001041.4:p.E640G

Associated Papers

Genetic sucrase-isomaltase deficiency: epidemiology, clinical spectrum, and diagnostic challenge.

Demir E et al.

Scandinavian Journal of Gastroenterology, 2026

Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency.

Husein DM et al.

Nutrients, 2020

Increased Prevalence of Rare Sucrase-isomaltase Pathogenic Variants in Irritable Bowel Syndrome Patients.

Garcia-Etxebarria K et al.

Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2018

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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."