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. 2022 Jul 2;23(13):7398. doi: 10.3390/ijms23137398

Figure 5.

Figure 5

Disease onset in patients harboring homozygous variant p.Gly47Valfs*3 (baseline group) compared with the other patients. Note the significantly earlier median age of onset in the baseline group. Other patients had very variable disease onsets i.e., Patient 2 (p.Met1?; p.Leu246Pro) at the age of 59 years, Patient 22 (p.Ala210Gluufs*16 homozygous) at the age of 45 years and Patient 23 (p.Arg236_Val237insGly homozygous) at the age of 19 years. Note that all patients with pathogenic variant p.Gly47Valfs*3 are in the blue color. The colors of the patients are the same in Figure 5, Figure 6, Figure 7 and Figure 8.