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| Likely inborn error of metabolism - targeted testing not possible v1.47 | ABHD5 |
Ivone Leong Source NHS GMS was added to ABHD5. Source London North GLH was added to ABHD5. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ABHD5 |
Ellen McDonagh gene: ABHD5 was added gene: ABHD5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD5 were set to 27604308 Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome 275630; Neutral lipid storage disease (Disorders of lipolysis) |
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