Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study. - Kato, Tamaki; Yokomura, Mamoru; Osawa, Yutaka; Matsuo, Kensuke; Kubo, Yuji; Homma, Taihei; Saito, Kayoko (Orphanet Journal of Rare Diseases, 2025)