Varaico: Literature-Extracted Genetic Variants

Gene:SI
Variant:p.C635R
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SI

NM_001041.4:p.C635R

Associated Papers

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

Senftleber NK et al.

The Application of Clinical Genetics, 2023

The glucose-regulated protein GRP94 interacts avidly in the endoplasmic reticulum with sucrase-isomaltase isoforms that are associated with congenital sucrase-isomaltase deficiency.

Hoter A et al.

International Journal of Biological Macromolecules, 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

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

Husein DM et al.

Nutrients, 2019

Altered folding, turnover, and polarized sorting act in concert to define a novel pathomechanism of congenital sucrase-isomaltase deficiency.

Keiser M et al.

The Journal of Biological Chemistry, 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."