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Plos One|March 15, 2016
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 MutationsZheng Wang, Aritoshi Iida, Noriko Miyake, et al.Journal of Medical Genetics|March 18, 2024
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseasesKensuke Goto, Yoshito Koyanagi, Masato Akiyama, et al.Pageof 13