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. 2021 Jul 16;8(7):601. doi: 10.3390/children8070601

Figure 2.

Figure 2

GAA variants found in patients with Pompe disease or in general population databases. (a) Number of GAA variants with MAF < 1% in general population databases (KRGDB, jMorp, and gnomAD) (East Asian) and number of (likely) pathogenic variants (with a review status of ≥2 gold stars in ClinVar) in the Pompe disease GAA variant database; (b) comparison of (likely) pathogenic variants found in Korean or Japanese patients, KRGDB, and jMorp; and (c) number of GAA variants in the Pompe disease GAA variant database, number of GAA variant with MAF < 1% in gnomAD (global), and number of (likely) pathogenic variants with a review status of ≥2 gold stars in ClinVar.