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| Likely inborn error of metabolism - targeted testing not possible v1.47 | TSFM |
Ivone Leong Source NHS GMS was added to TSFM. Source London North GLH was added to TSFM. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | TSFM |
Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 3 610505; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: TSFM Publications for gene TSFM were changed from 27604308; 25037205; 17033963 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | TSFM |
Ellen McDonagh gene: TSFM was added gene: TSFM was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSFM were set to 27604308; 25037205; 17033963 Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, 610505 |
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