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Candidate pathogenic mutation in patient 2. Top: Structure of p53 protein with binding domains and frameshift mutation at position 343 located in the oligomerization domain. TAD = Transactivation domain (green), PRD = proline rich domain (yellow), OD = oligomerization domain (blue). Bottom: Candidate pathogenic mutation identified via targeted sequencing analysis of case 2 biopsy specimen by Heme-STAMP. Filtered depth = read depth of the variant allele
