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. 2020 Aug 20;8(10):e1453. doi: 10.1002/mgg3.1453

Figure 3.

Figure 3

Images and mutational information of patients with protein‐truncating or deleterious missense variants. Spine X‐rays of six patients with truncating variants or deleterious missense variants are presented. Sanger sequencing results and residue conservation of these variants are also shown