Varaico: Literature-Extracted Genetic Variants

Gene:SI
Variant:p.Q117R
Back to variants list

SI

NM_001041.4:p.Q117R

Associated Papers

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

Senftleber NK et al.

The Application of Clinical Genetics, 2023

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

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

Husein DM et al.

Nutrients, 2019

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

Haberman Y et al.

Journal of Pediatric Gastroenterology and Nutrition, 2017

Functional analysis of sucrase-isomaltase mutations from chronic lymphocytic leukemia patients.

Rodríguez D et al.

Human Molecular Genetics, 2013

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

Sander P et al.

Human Mutation, 2006

Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder.

Spodsberg N et al.

The Journal of Biological Chemistry, 2001

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."