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. 2021 Nov 15;9:754261. doi: 10.3389/fped.2021.754261

Figure 2.

Figure 2

De novo c.892C>T (p.Arg298Trp) missense change in NACC1. (A) Pedigree of the family. A heterozygous missense was detected in the proband but not the parents. (B) Sanger validation of the missense variant in the proband and parents. Arrow indicates the site of the variant.