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. 2020 Feb;210:59–70. doi: 10.1016/j.ajo.2019.10.019

Table 2.

Predicted Effect of GUCY2D Variants

Effect Na Frequency
Frameshift 9 21.4%
In-frame deletion 3 7.1%
Missense 25 59.5%
Nonsense 1 2.4%
Splicing defect 4 9.5%
a

Total n = 42, 2 alleles per patient.