Varaico: Literature-Extracted Genetic Variants

Gene:MGAM
Variant:p.V521I
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MGAM

NM_001365693.1:p.V521I

Associated Papers

Prevalence of lysosomal storage disease (LSD) in Malaysia.

Omar A et al.

The Malaysian Journal of Pathology, 2025

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.

Chan MY et al.

Orphanet Journal of Rare Diseases, 2023

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.

McCready ME et al.

Molecular Genetics and Metabolism, 2007

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."