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| Likely inborn error of metabolism - targeted testing not possible v1.47 | CA5A |
Ivone Leong Source NHS GMS was added to CA5A. Source London North GLH was added to CA5A. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | CA5A |
Ellen McDonagh gene: CA5A was added gene: CA5A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CA5A were set to 27604308 Phenotypes for gene: CA5A were set to Hyperammonemia due to carbonic anhydrase VA deficiency; Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias) |
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