The Journal of molecular diagnostics : JMDHumansMuscular AtrophySpinalSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 Protein
A More Clinically Effective Long-Read Sequencing-Based Approach for Comprehensive Analysis of Spinal Muscular Atrophy.
Shuyuan Li, Bailing Liu, Jingfan Zhang, Ning Tang, Renyi Hua, Jinling Yang, Xingling Huang, Haoxian Li, Aiping Mao, Libao Chen, Jiwei Huang, Yanlin Wang
Published: 202610.1016/j.jmoldx.2025.10.009
Abstract
Conventional methods for spinal muscular atrophy (SMA) screening have been challenging in detecting SMN1/2 single-nucleotide variants (SNVs) and small insertions and deletions, SMN1 2 + 0 silent carrier, and the copy number (CN) of SMN2. To address t…
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