Activity
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| Likely inborn error of metabolism v8.2 | NEU1 | Arina Puzriakova Phenotypes for gene: NEU1 were changed from Sialidosis type II; Sialidosis, type I; Sialidosis (Oligosaccharidoses); Mucolipidosis, Type I; Sialidosis to Sialidosis, type I, OMIM:256550; Sialidosis, type II, OMIM:256550; Mucolipidosis, Type I | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism 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 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 |
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