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. Author manuscript; available in PMC: 2024 Jul 1.
Published in final edited form as: Am J Med Genet A. 2023 May 14;191(7):1900–1910. doi: 10.1002/ajmg.a.63226

Figure 1.

Figure 1.

Spectrum of variants identified in PPM1D. Variants are identified by position in the amino acid sequence. The number within the circle indicates the case number from this series. All variants fall within exons 5 and 6 of PPM1D, which comprises six exons total.