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May 13, 2024BMC PediatricsOpen Access

Third-generation sequencing identified a novel complex variant in a patient with rare alpha-thalassemia

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Authors

CZCong ZhouSichuan UniversityYDYepei DuSichuan UniversityHZHaixia ZhangXihua University

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Cite This Study

Zhou et al. (2024) studied this question.

synapsesocial.com/papers/68e6a61fb6db6435876291a2https://doi.org/10.1186/s12887-024-04811-1
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Screening and Diagnosis of Rare Thalassemia Variants: Is Third-Generation Sequencing Enough?2024 · 7 citations
  2. 2First clinical and molecular characterization of two rare complex β-globin variants in Chinese population using third generation sequencing2026
  3. 3[Progress in the Genetic Detection of Thalassemia Based on Third-Generation Gene Sequencing --Review].2024 · 1 citations
  4. 4Single‐Molecule Real‐Time Sequencing Reveals Hidden Diversity and Corrects Misdiagnosis in α‐Thalassemia2026
  5. 5Difficult Cases in the Diagnosis of Thalassemia Syndromes.2026