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Likely inborn error of metabolism - targeted testing not possible v1.47 | NEU1 |
Ivone Leong Source NHS GMS was added to NEU1. Source London North GLH was added to NEU1. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NEU1 |
Ellen McDonagh gene: NEU1 was added gene: NEU1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEU1 were set to 27604308 Phenotypes for gene: NEU1 were set to Sialidosis type II; Sialidosis, type I; Sialidosis (Oligosaccharidoses); Mucolipidosis, Type I; Sialidosis |