Activity
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3 actions
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| Likely inborn error of metabolism v1.47 | FARS2 |
Ivone Leong Source NHS GMS was added to FARS2. Source London North GLH was added to FARS2. |
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| Likely inborn error of metabolism v0.4 | FARS2 |
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)); Combined oxidative phosphorylation deficiency 14, 614946 for gene: FARS2 Publications for gene FARS2 were changed from to 27604308 |
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| Likely inborn error of metabolism v0.4 | FARS2 |
Ellen McDonagh gene: FARS2 was added gene: FARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 14, 614946 |
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