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Splice Site MutationGenetic DisorderGeneticsMolecular BiologyMolecular GeneticsChromosomal RearrangementGenomicsOut-of-frame DeletionMedicineAnimal GeneticsMutagenesisCompound Heterozygosity
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John A. McGrath, Biljana Gatalica, Angela M. Christiano et al. · Nature Genetics · 1995 · 368 citations