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. 2021 May 5;11:9560. doi: 10.1038/s41598-021-88911-3

Figure 1.

Figure 1

Identification of RLIM p.(Tyr421Cys), a novel variant in a severe form of Tonne–Kalscheuer Syndrome. (a) Schematic diagram of the RLIM protein domain structure, with the position of the c.1262A>G p.(Tyr421Cys) variant identified by exome sequencing indicated. (b) (Left panel) Genomic DNA sequencing electropherogram identifying the RLIM c.1262A>G p.(Tyr421Cys) variant within the kindred. Figure was generated using SoftGenetics Mutation Surveyor v5.01 (https://softgenetics.com/mutationSurveyor.php). (Right panel) Family pedigree showing inheritance of the RLIM c.1262A>G p.(Tyr421Cys) variant.