Cell · 2012 · 1.6K citations · 72 references
MedicineGeneticsMolecular GeneticsCancer GeneticsMolecular EvolutionMolecular OncologyClonal EvolutionHematologic MalignanciesMutation AnalysisMutation ProcessesMutational SignaturesOncogene MutationsAcute LeukemiasAcute Myeloid Leukemia BiologyBcr-abl1 Fusion Gene
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