Associated Papers
A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease.
Bergsma AJ et al.
European Journal of Human Genetics : Ejhg, 2021
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
Montalvo AL et al.
Human Mutation, 2006
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