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. Author manuscript; available in PMC: 2019 Oct 1.
Published in final edited form as: Eur J Med Genet. 2018 Apr 12;61(10):616–620. doi: 10.1016/j.ejmg.2018.04.005

Figure 1. Pedigree and identified MARS variants.

Figure 1

(A) Sanger segregation of the variants in the family. (B) Conservation of affected residues. (C) Position of MARS residues associated with Charcot-Marie-Tooth disease type 2U (CMT2U; in blue) and interstitial lung and liver disease (ILLD; in green).