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Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

Rare DiseasesMendelian DisorderGenetic DisorderMedicineGeneticsMolecular BiologyDegenerative DiseaseDisease Gene IdentificationHereditary Spastic ParaplegiaNeuromuscular PathologyNeuromusculoskeletal Disorder