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Open Access Rapid Communication Issue
A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis
Miao Sun, Cornelia K. Kaminsky, Philip Deppe, Mai-Britt Ilse, Frédéric M. Vaz, Barbara Plecko, Torben Lübke, Linda M. Randolph
Genes & Diseases 2024, 11(3): 101025
Published: 10 July 2023
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