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| Likely inborn error of metabolism - targeted testing not possible v1.47 | ARSB |
Ivone Leong Source NHS GMS was added to ARSB. Source London North GLH was added to ARSB. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ARSB |
Ellen McDonagh gene: ARSB was added gene: ARSB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSB were set to 27604308 Phenotypes for gene: ARSB were set to MUCOPOLYSACCHARIDOSIS TYPE 6; Mucopolysaccharidosis, Type VI; Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200; Mucopolysaccharidosis Type VI; MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease) |
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