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. 2020 May 5;69(2):262–277. doi: 10.1007/s12020-020-02323-3

Table 2.

Influence of different genotypes containing P30L mutation on the phenotype

Genotype SV NC SW
P30L/del 7.2% 86.6% 7.2%
P30L/P30L 32.3% 66.7% 0%
P30L/I2 splice 65.2% 17.4% 17.4%
P30L/8Δbp 50% 50% 0%
P30L/I172N 22.2% 77.8% 0%
P30L/V281L 12.5% 87.5% 0%
P30L/Q318X 60% 40% 0%
P30L/R356W 33.3% 66.7% 0%

Data extracted from New et al. [45]