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| Likely inborn error of metabolism - targeted testing not possible v0.4 | TPK1 | Ellen McDonagh Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | TPK1 |
Ellen McDonagh gene: TPK1 was added gene: TPK1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPK1 were set to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 |
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