A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis
Sun, Miao, Kaminsky, Cornelia K., Deppe, Philip, Ilse, Mai-Britt, Vaz, Frédéric M., Plecko, Barbara, Lübke, Torben, Randolph, Linda M.
Published in Genes & diseases (01.05.2024)
Published in Genes & diseases (01.05.2024)
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