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Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

BiologyGenotype-phenotype CorrelationsAllelic VariantGeneticsMolecular GeneticsGenetic VariationDisease Gene IdentificationGenomicsMedicineGene Deletion DataVariant InterpretationLarge Deletions/duplications