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| Likely inborn error of metabolism - targeted testing not possible v1.47 | GALNS |
Ivone Leong Source NHS GMS was added to GALNS. Source London North GLH was added to GALNS. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | GALNS |
Ellen McDonagh gene: GALNS was added gene: GALNS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALNS were set to 27604308 Phenotypes for gene: GALNS were set to MUCOPOLYSACCHARIDOSIS TYPE 4A; Mucopolysaccharidosis Type IVA; Mucopolysaccharidosis IVA, 253000; Mucopolysaccharidosis, Type IV; MPS IVA, Morquio A disease (MPS IV, Morquio disease) |
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