Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.G550_T551insFs
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GAA

NM_000152.5:p.G550_T551insFs

Associated Papers

Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease.

Desai AK et al.

Genetics in Medicine Open, 2026

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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."