A More Clinically Effective Long-read Sequencing-based Approach for Comprehensive Analysis of Spinal Muscular Atrophy
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Conventional methods for spinal muscular atrophy (SMA) screening have been challenging in detecting SMN1/2 single-nucleotide variants (SNVs) and small insertions and deletions (indels), SMN1 2+0 silent carrier, and the copy number (CN) of SMN2. To address thes... ...
