Varaico: Literature-Extracted Genetic Variants

Gene:MGAM
Variant:p.S545F
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MGAM

NM_001365693.1:p.S545F

Associated Papers

Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China.

Zhao HH et al.

Annals of Translational Medicine, 2021

Childhood Pompe disease: clinical spectrum and genotype in 31 patients.

van Capelle CI et al.

Orphanet Journal of Rare Diseases, 2016

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

Glycogenosis type II (acid maltase deficiency).

Reuser AJ et al.

Muscle & Nerve. Supplement, 1995

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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."