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| Likely inborn error of metabolism - targeted testing not possible v1.47 | HSD17B4 |
Ivone Leong Source NHS GMS was added to HSD17B4. Source London North GLH was added to HSD17B4. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | HSD17B4 |
Ellen McDonagh gene: HSD17B4 was added gene: HSD17B4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD17B4 were set to 27604308 Phenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency, 261515; Peroxisomal D-bifunctional protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) |
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