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. 2022 May 18;13(6):537–542. doi: 10.1159/000524703

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Fig. 2 — a Sequence analysis of CUL7 showing the c.418_419delAC (p.Thr140Cysfs*11) variant in exon 2. b Sequence analysis of ILDR1 showing the c.942C>A (p.Cys314Ter) variant in exon 7. Sanger sequence analysis confirmed that both parents were heterozygous for the 2 variants.