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| Likely inborn error of metabolism - targeted testing not possible v1.47 | MTHFR |
Ivone Leong Source NHS GMS was added to MTHFR. Source London North GLH was added to MTHFR. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | MTHFR |
Ellen McDonagh gene: MTHFR was added gene: MTHFR was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTHFR were set to 27604308 Phenotypes for gene: MTHFR were set to Methylenetetrahydrofolate reductase deficiency (Disorders of folate metabolism and transport); Homocystinuria due to MTHFR deficiency |
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