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. 2021 Dec 6;12:763467. doi: 10.3389/fgene.2021.763467

FIGURE 2.

FIGURE 2

Genetic findings. (A) Pedigree diagram and the two variants detected in this case. Dark blue and red blocks represent the carrying status of these variants, respectively. (B) The location of these two variant illustrated in gene and protein schematics. (C) The conservatism of the amino acid Arg748 (R748) affected by c. 2242C > T variant across species.