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Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship

Mendelian DisorderNovel MissenseGenetic DisorderGeneticsMolecular BiologyMolecular GeneticsDisease Gene IdentificationGenomicsGenotype-phenotype RelationshipMedicineSplice Consensus Mutations