Activity
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3 actions
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| Likely inborn error of metabolism v1.47 | GFER |
Ivone Leong Source NHS GMS was added to GFER. Source London North GLH was added to GFER. |
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| Likely inborn error of metabolism v0.4 | GFER |
Ellen McDonagh Added phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Disorders of the mitochondrial import system; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: GFER Publications for gene GFER were changed from 19409522; PMID: 26018198 to 27604308 |
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| Likely inborn error of metabolism v0.4 | GFER |
Ellen McDonagh gene: GFER was added gene: GFER was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFER were set to 19409522; PMID: 26018198 Phenotypes for gene: GFER were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Disorders of the mitochondrial import system; Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076 |
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