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Likely inborn error of metabolism - targeted testing not possible v4.14 | MRPS14 | Arina Puzriakova Phenotypes for gene: MRPS14 were changed from ?Combined oxidative phosphorylation deficiency 38, 618378 to ?Combined oxidative phosphorylation deficiency 38, OMIM:618378 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.406 | MRPS14 | Catherine Snow commented on gene: MRPS14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.406 | MRPS14 |
Catherine Snow gene: MRPS14 was added gene: MRPS14 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS14 were set to 30358850 Phenotypes for gene: MRPS14 were set to ?Combined oxidative phosphorylation deficiency 38, 618378 |