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Pompe disease is an autosomal recessive lysosomal storage disorder caused by disease‐associated variants in the acid alpha‐glucosidase (GAA) gene. The current Pompe mutation database provides a severity rating of GAA variants based on in silico predictions and expression studies. Here, we extended the database with clinical information of reported phenotypes. We added additional in silico predictions...
Front Cover: The cover image is based on the Research Article GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry by Arnold J. J. Reuser et al., https://doi.org/10.1002/humu.23878 and Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity by Monica Y. Niño et al., https://doi.org/10.1002/humu.23854.
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