Varaico: Literature-Extracted Genetic Variants

Gene:LCT
Variant:p.G1073D
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LCT

NM_002299.4:p.G1073D

Associated Papers

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

Alfalah M et al.

Gastroenterology, 2009

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."