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. 2022 Dec;8(7):a006253. doi: 10.1101/mcs.a006253

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© 2022 Bhatia et al.; Published by Cold Spring Harbor Laboratory Press

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Figure 1. — Pedigree showing individuals who are heterozygous for the variant NM_018328.5:c.728delC. Affected individuals are marked as black filled symbols and the mosaic individual is indicated with a gray filled symbol.