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Likely inborn error of metabolism - targeted testing not possible v1.372 | MRPS23 | Catherine Snow reviewed gene: MRPS23: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPS23 |
Ellen McDonagh gene: MRPS23 was added gene: MRPS23 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MRPS23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS23 were set to PMID: 26741492 Phenotypes for gene: MRPS23 were set to hepatic disease and combined respiratory chain complex deficiencies |