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A High-Fidelity Long-Read Sequencing-Based Approach Enables Accurate and Effective Genetic Diagnosis of Spinal Muscular Atrophy

Jinli Bai,Yujin Qu,Wenchen Huang,Wanli Meng,Jiahan Zhan,Hong Wang, Wenqi Hou,Yuwei Jin,Aiping Mao,Fang Song

CLINICA CHIMICA ACTA（2024）

Cited 4|Views21
Key words
Spinal muscular atrophy,Genetic diagnosis,SMN CN and variations,SMN1 2+0 carrier,High-fidelity long-read sequencing
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