Varaico: Literature-Extracted Genetic Variants

Gene:MGAM
Variant:p.P493S
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MGAM

NM_001365693.1:p.P493S

Associated Papers

Elevated Transaminases: Does It Always Warrant a Liver Biopsy? Lessons Learned From Pompe Disease.

Khazzeka A et al.

Jimd Reports, 2025

Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.

Khan AA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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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."