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Likely inborn error of metabolism - targeted testing not possible v4.90 | ASL | Eleanor Williams Publications for gene: ASL were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.89 | ASL | Eleanor Williams Phenotypes for gene: ASL were changed from Argininosuccinic aciduria; Argininosuccinic aciduria (Urea cycle disorders and inherited hyperammonaemias) to Argininosuccinic aciduria, OMIM:207900; argininosuccinic aciduria, MONDO:0008815 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.47 | ASL |
Ivone Leong Source NHS GMS was added to ASL. Source London North GLH was added to ASL. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ASL |
Ellen McDonagh gene: ASL was added gene: ASL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASL were set to 27604308 Phenotypes for gene: ASL were set to Argininosuccinic aciduria; Argininosuccinic aciduria (Urea cycle disorders and inherited hyperammonaemias) |