Varaico: Literature-Extracted Genetic Variants

Gene:SI
Variant:p.V638L
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SI

NM_001041.4:p.V638L

Associated Papers

43 G > T polymorphism in the sucrase-isomaltase gene in the Chinese population prevents the glucose-lowering effect of acarbose.

Huang J et al.

Clinical Biochemistry, 2025

Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?

McIntosh P et al.

American Journal of Medical Genetics. Part A, 2017

Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study.

van Capelle CI et al.

Neuromuscular Disorders : Nmd, 2010

Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.

Vorgerd M et al.

Neurogenetics, 1998

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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."