Varaico: Literature-Extracted Genetic Variants

Gene:SI
Variant:p.R774G
Back to variants list

SI

NM_001041.4:p.R774G

Associated Papers

The Associations of Sucrase-Isomaltase Hypomorphic Variants With Long-Term Outcomes and Dietary Intake in an Australian Irritable Bowel Syndrome Population Educated on the FODMAP Diet: A Cross-Sectional and Retrospective Study.

Silva H et al.

United European Gastroenterology Journal, 2026

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

Demir E et al.

Scandinavian Journal of Gastroenterology, 2026

Exploring genetic variants in congenital monosaccharide-disaccharide metabolism: Carrier ratios and phenotypic insights.

Akcan MB et al.

Journal of Pediatric Gastroenterology and Nutrition, 2024

Genetic Variants in Carbohydrate Digestive Enzyme and Transport Genes Associated with Risk of Irritable Bowel Syndrome.

Hong H et al.

Medrxiv : the Preprint Server for Health Sciences, 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

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

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1396.504
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."