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Likely inborn error of metabolism - targeted testing not possible v1.47 | FOLR1 |
Ivone Leong Source NHS GMS was added to FOLR1. Source London North GLH was added to FOLR1. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FOLR1 |
Ellen McDonagh gene: FOLR1 was added gene: FOLR1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOLR1 were set to 27604308 Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068; Cerebral folate deficiency due to FOLR1 deficiency (Disorders of folate metabolism and transport) |