Autor: Aiko Iwata-Otsubo
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Towards Comprehensive Detection of the SMN1/2 Genotypes: Potential of Long-Read Sequencing in Routine SMA Genetic Testing
Spinal muscular atrophy [SMA; Online Mendelian Inheritance in Man (OMIM), https://omim.org/entry/253300, last accessed 11/19/2025)] is a genetic disorder characterized by progressive muscle weakness due to degeneration of motor neurons in the spinal co…