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. 2021 Aug 13;12(8):1241. doi: 10.3390/genes12081241

Table 5.

A summary of the severity classification of the variants described by Curtis et al. [161].

Class ABCA4 Expression Basal ATPase Activity Stimulation by N-Ret-PE
1 Significantly reduced <50% Not stimulated
2 Partial reduction 50–80% Modestly stimulated
3 Comparable to WT Comparable to WT Comparable to WT