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Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia

Hereditary TyrosinemiaMendelian DisorderHepatologyGenetic DisorderLiver PhysiologyInherited Metabolic DiseaseGenetic EpidemiologyGeneticsPathologyFrequent Mutation ReversionDisease Gene IdentificationMedicineClinical SeverityClinical Genetics