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| Likely inborn error of metabolism - targeted testing not possible v1.47 | MMAB |
Ivone Leong Source NHS GMS was added to MMAB. Source London North GLH was added to MMAB. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | MMAB |
Ellen McDonagh gene: MMAB was added gene: MMAB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMAB were set to 27604308 Phenotypes for gene: MMAB were set to Defect in adenosylcobalamin synthesis-cbl B (Disorders of cobalamin absorption, transport and metabolism); Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110 |
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