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Whole‐exome and Sanger sequencing results for PRRT2 variants in a homopolymeric region. Patient‐derived exome data visualized with the Integrative Genomics Viewer show a heterozygous duplication in patient‐1 (A) and a heterozygous deletion in patient‐2 (B). Sanger electopherogram confirms the presence of the duplication (C), whereas the deletion is not found by Sanger analysis (D). A control is also shown (E); red arrows indicate the affected position in PRRT2.
