Article

Four novel large deletions and complex variants were identified in α-globin locus in Chinese population

2022-10-12

Abstract excerpt

<h4>Background: </h4> At present, the usual methods used to detect a-thalassemia mutations are confined to detect the common mutations, which may easy to result in misdiagnosis or missed diagnosis. Single molecule real time sequencing (SMRT) enables long-read single-molecule sequencing with high detection accuracy, and long-length DNA chain reads in high-fidelity reads mode. <h4>Methods: </h4>: Herein, we used SM...

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Literature Corpus work: 3022b37e-7b80-59e8-9be7-58485ce014ec
DOI: 10.21203/rs.3.rs-2141878/v1

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