Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.V211M
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GAA

NM_000152.5:p.V211M

Associated Papers

Significance of early diagnosis and treatment of adult late-onset Pompe disease on the effectiveness of enzyme replacement therapy in improving muscle strength and respiratory function: a case report.

Mir M et al.

Journal of Medical Case Reports, 2024

Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.

Balendran-Braun S et al.

Human Mutation, 2024

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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."