Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening
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DOI: 10.3389/fgene.2022.1001154
Abstract: Purpose: The addition of Pompe disease (Glycogen Storage Disease Type II) to the Recommended Uniform Screening Panel in the United States has led to an increase in the number of variants of uncertain significance (VUS)… read more here.
Keywords: classification; gaa variants; pompe disease; newborn screening ... See more keywords