Activity
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2 actions
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| Likely inborn error of metabolism v1.47 | NAGS |
Ivone Leong Source NHS GMS was added to NAGS. Source London North GLH was added to NAGS. |
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| Likely inborn error of metabolism v0.4 | NAGS |
Ellen McDonagh gene: NAGS was added gene: NAGS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAGS were set to 27604308 Phenotypes for gene: NAGS were set to N-Acetylglutamate synthetase deficiency (Urea cycle disorders and inherited hyperammonaemias); N-acetylglutamate synthase deficiency |
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