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| Likely inborn error of metabolism - targeted testing not possible v1.47 | AARS2 |
Ivone Leong Source NHS GMS was added to AARS2. Source London North GLH was added to AARS2. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | AARS2 |
Ellen McDonagh Added phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); Combined oxidative phosphorylation deficiency 8, 614096; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); infantile mitochondrial cardiomyopathy for gene: AARS2 Publications for gene AARS2 were changed from 25058219; PMID: 21549344 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | AARS2 |
Ellen McDonagh gene: AARS2 was added gene: AARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS2 were set to 25058219; PMID: 21549344 Phenotypes for gene: AARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 8, 614096; infantile mitochondrial cardiomyopathy |
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