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Likely inborn error of metabolism - targeted testing not possible v1.47 | SLC27A5 |
Ivone Leong Source NHS GMS was added to SLC27A5. Source London North GLH was added to SLC27A5. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC27A5 |
Ellen McDonagh gene: SLC27A5 was added gene: SLC27A5 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC27A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC27A5 were set to 27604308 Phenotypes for gene: SLC27A5 were set to Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis) |