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. Author manuscript; available in PMC: 2022 Jan 1.
Published in final edited form as: Mol Genet Metab. 2020 Oct 17;132(1):27–37. doi: 10.1016/j.ymgme.2020.10.007

Figure 4.

Figure 4.

Results of Whole Exome Sequencing. The reads from the NGS data indicate the two DPM2 alterations are on opposite alleles (A; note the genomic sequence is from the reverse strand). Sanger sequencing confirmed the p.Arg47* (c.139C>T) alteration was inherited from the father (B) while the p.Gly58Asp (c.173G>A) change was maternal in origin (C).