Associated Papers
Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing.
Miller CR et al.
Human Mutation, 2023
40225149 (PubMed )
Supplement: 6436853.f1.docx
Clinical-functional characterization of patients with spinal muscular atrophy in Central-Western Colombia
Cardona N et al.
Biomedica : Revista Del Instituto Nacional De Salud, 2022
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy.
Mendonça RH et al.
Neurology. Genetics, 2020
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
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