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Likely inborn error of metabolism - targeted testing not possible v1.47 | PREPL |
Ivone Leong Source NHS GMS was added to PREPL. Source London North GLH was added to PREPL. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PREPL |
Ellen McDonagh gene: PREPL was added gene: PREPL was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PREPL were set to 27604308 Phenotypes for gene: PREPL were set to Hypotonia-cystinuria syndrome 606407; Hypotonia-cystinuria syndrome (Disorders of amino acid transport) |