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Clinical Genetics|April 10, 2025
Novel ABCD1 Variants in X-Linked AdrenoleukodystrophySen-Wei Dong, Li-Mei Xiao, Yu-Hao Sun, et al.Journal of Human Genetics|April 6, 2026
SMN1 mutation spectrum and functional analysis of novel SMN1 variants in a Chinese spinal muscular atrophy cohortGui-He Li, Li-Wen Wu, Jing Li, et al.Pageof 1