Figure 1
Figure 1. Spectrum of Munc18-2 mutations detected in our cohort. New mutations are shaded in gray. Three mutations were seen in ≥ 5 patients: 13 patients had mutations affecting one of the exon 15 splice sites, 7 patients from central Europe had p.Gly541Ser, and 5 patients of Arab origin had p.Pro477Leu. For details see Tables 1 and 2.

Spectrum of Munc18-2 mutations detected in our cohort. New mutations are shaded in gray. Three mutations were seen in ≥ 5 patients: 13 patients had mutations affecting one of the exon 15 splice sites, 7 patients from central Europe had p.Gly541Ser, and 5 patients of Arab origin had p.Pro477Leu. For details see Tables 1 and 2.

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