Activity
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3 actions
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| Likely inborn error of metabolism v1.47 | YARS2 |
Ivone Leong Source NHS GMS was added to YARS2. Source London North GLH was added to YARS2. |
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| Likely inborn error of metabolism v0.4 | YARS2 |
Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2 Publications for gene YARS2 were changed from to 27604308 |
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| Likely inborn error of metabolism v0.4 | YARS2 |
Ellen McDonagh gene: YARS2 was added gene: YARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: YARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 |
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