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| Likely inborn error of metabolism - targeted testing not possible v1.47 | RFT1 |
Ivone Leong Source NHS GMS was added to RFT1. Source London North GLH was added to RFT1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | RFT1 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type In 612015; Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation) for gene: RFT1 Publications for gene RFT1 were changed from 23111317 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | RFT1 |
Ellen McDonagh gene: RFT1 was added gene: RFT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFT1 were set to 23111317 Phenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In 612015; Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation) |
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