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| Likely inborn error of metabolism - targeted testing not possible v1.47 | MMACHC |
Ivone Leong Source NHS GMS was added to MMACHC. Source London North GLH was added to MMACHC. |
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| Likely inborn error of metabolism - targeted testing not possible v1.2 | MMACHC | Louise Daugherty Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria, cblC type to Methylmalonic aciduria and homocystinuria, cblC type, 277400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | MMACHC |
Ellen McDonagh gene: MMACHC was added gene: MMACHC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 27604308 Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type |
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