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Identical germ-line mutations in the triosephosphate isomerase alleles of two brothers are associated with distinct clinical phenotypes

Allelic VariantDistinct Clinical PhenotypesGenetic DisorderGeneticsMolecular BiologyMolecular GeneticsDisease Gene IdentificationGenomicsMedicineIdentical Germ-line MutationsTriosephosphate Isomerase AllelesMutagenesis