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. 2022 Jan 28;30(5):619–627. doi: 10.1038/s41431-022-01046-5

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Fig. 2 — Sanger sequence traces of the SMG9 gene variant c.551T > C p.(Val184Ala) showing a healthy control individual (wild type), a healthy heterozygous carrier, and a homozygous patient. Reverse sequences are shown.