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
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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