Varaico: Literature-Extracted Genetic Variants

Gene:SI
Variant:p.R1367G
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SI

NM_001041.4:p.R1367G

Associated Papers

Sucrase-isomaltase genotype and response to a starch-reduced and sucrose-reduced diet in IBS-D patients.

Zamfir-Taranu A et al.

Gut, 2024

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

Senftleber NK et al.

The Application of Clinical Genetics, 2023

Sucrase-isomaltase Gene Variants in Patients With Abnormal Sucrase Activity and Functional Gastrointestinal Disorders.

Deb C et al.

Journal of Pediatric Gastroenterology and Nutrition, 2021

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

A mutation map for human glycoside hydrolase genes.

Hansen L et al.

Glycobiology, 2020

Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency.

Husein DM et al.

Nutrients, 2019

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

Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization.

Haberman Y et al.

Journal of Pediatric Gastroenterology and Nutrition, 2017

Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.

Sander P et al.

Human Mutation, 2006

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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."