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Figure 3 Hederogram of the phenomenon of compound heterozygosis for transmission of two different mutations from both parents on the same gene.
The individual I-1 is heterozygous for the N88K mutation.
I-2 is heterozygous for the A73D mutation.
Proband II-1 is compound heterozygote as it received the two mutations in the rapsyn gene, one from each parent.
Source: prepared by the authors based on the results of the genetic study
