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Quantitative Analysis of Survival Motor Neuron Copies: Identification of Subtle SMN1 Mutations in Patients with Spinal Muscular Atrophy, Genotype-Phenotype Correlation, and Implications for Genetic Counseling

Rare DiseasesGenetic DisorderGeneticsNeuromotor DisordersGenetic EpidemiologyQuantitative AnalysisGenetic CounselingSpinal Muscular AtrophyNeurologyDisease Gene IdentificationMedicineVariant Interpretation