Varaico: Literature-Extracted Genetic Variants

Gene:SI
Variant:p.C1229Y
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SI

NM_001041.4:p.C1229Y

Associated Papers

Congenital sucrase-isomaltase mutations worsen IBS-linked V15F dysfunction and trafficking.

Tannous S et al.

Gut, 2025

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

Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients.

Gericke B et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017

Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency.

Alfalah M et al.

Gastroenterology, 2009

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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."