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. Author manuscript; available in PMC: 2023 Mar 1.
Published in final edited form as: Am J Med Genet A. 2021 Dec 13;188(3):959–964. doi: 10.1002/ajmg.a.62584

FIGURE 1.

FIGURE 1

HHT family with GDF2 missense variant and reduced plasma BMP9 levels. (a) Pedigree at the time of family recruitment. The proband (III.1) is arrowed. (b) Sanger sequencing trace from individual III.2 showing the heterozygous GDF2 variant. Nucleotide sequence and protein translation are depicted below, with variants denoted in red font. (c) Circulating BMP9 levels in human plasma from the three individuals carrying the c.1282T>C variant were significantly lower than in five unaffected individuals collected and analyzed under the same conditions (*p = 0.036, Mann–Whitney two-tailed test)