Activity
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3 actions
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| Likely inborn error of metabolism v1.47 | TRMU |
Ivone Leong Source NHS GMS was added to TRMU. Source London North GLH was added to TRMU. |
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| Likely inborn error of metabolism v0.4 | TRMU |
Ellen McDonagh Added phenotypes {Deafness, mitochondrial, modifier of}, 580000; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Liver failure, transient infantile, 613070 for gene: TRMU Publications for gene TRMU were changed from to 27604308 |
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| Likely inborn error of metabolism v0.4 | TRMU |
Ellen McDonagh gene: TRMU was added gene: TRMU was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMU were set to {Deafness, mitochondrial, modifier of}, 580000; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Liver failure, transient infantile, 613070 |
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