Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.T286T
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GAA

NM_000152.5:p.T286T

Associated Papers

Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening.

Jackson DG et al.

Molecular Genetics and Metabolism Reports, 2023

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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."