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. 2022 Sep 21;42(9):BSR20220194. doi: 10.1042/BSR20220194

Figure 1. Pedigrees of the investigated families and segregation of their pathogenic variants.

Figure 1

Double lines indicates consanguineous parents; +/- indicates heterozygous for the variant; +/+ homozygous for the normal allele and -/- homozygous for the deleterious variant. The position of each variation is in-between brackets.