Activity
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2 actions
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| Likely inborn error of metabolism v1.47 | PPM1B |
Ivone Leong Source NHS GMS was added to PPM1B. Source London North GLH was added to PPM1B. |
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| Likely inborn error of metabolism v0.4 | PPM1B |
Ellen McDonagh gene: PPM1B was added gene: PPM1B was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PPM1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPM1B were set to 27604308; 15913950; 11524703 Phenotypes for gene: PPM1B were set to Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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