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. 2019 Aug 7;40(11):2146–2164. doi: 10.1002/humu.23878

Figure 1.

Figure 1

Location of novel variants in the GAA gene. (a) GAA gene with novel variants reported in the Pompe Registry. Variant listings are color coded to identify corresponding domain in the GAA protein (panel c). Variants listed in black text are either intronic or have no apparent protein‐level change. (b) GAA mRNA. (c) GAA protein