Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.Q915P
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GAA

NM_000152.5:p.Q915P

Associated Papers

Insights into immunogenicity and therapeutic strategies to mitigate the immune response in infantile-onset Pompe disease: a comprehensive systematic literature review.

Kishnani PS et al.

Frontiers in Immunology, 2025

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Reuser AJJ et al.

Human Mutation, 2019

Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.

Swift G et al.

Jimd Reports, 2017

Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy.

Broomfield A et al.

Journal of Inherited Metabolic Disease, 2016

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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."