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| Likely inborn error of metabolism - targeted testing not possible v1.47 | PUS1 |
Ivone Leong Source NHS GMS was added to PUS1. Source London North GLH was added to PUS1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PUS1 | Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Mitochondrial myopathy and sideroblastic anemia 1, 600462 for gene: PUS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | PUS1 |
Ellen McDonagh gene: PUS1 was added gene: PUS1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS1 were set to 27604308 Phenotypes for gene: PUS1 were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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