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| Likely inborn error of metabolism - targeted testing not possible v0.4 | LONP1 |
Ellen McDonagh Added phenotypes CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373) for gene: LONP1 Publications for gene LONP1 were changed from PMID: 25574826; PMID: 25808063 to 25574826; 25808063 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | LONP1 |
Ellen McDonagh gene: LONP1 was added gene: LONP1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LONP1 were set to PMID: 25574826; PMID: 25808063 Phenotypes for gene: LONP1 were set to CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373) |
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