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Family pedigrees for Kindreds 1, 2 and 3 and the NOP53 genotype for each heterozygous mutation (c.91G > C, p. Asp31His). Patients affected by thyroid cancer are shown in grey. The asterisk indicates p. Asp31His variant was observed in whole-exome sequencing (WES) and validated by Sanger sequencing, whereas ɬ indicates that the variant was identified using direct Sanger sequencing.
