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Article

Identification of four novel large deletions and complex variants in the α-globin locus in Chinese population.

Human genomics - 25 Apr 2023

Bao Xiuqin, Wang Jicheng, Qin Danqing, Yao Cuize, Liang Jie, Liang Kailing, Zeng Yukun, Du Li

Abstract excerpt

BACKGROUND: At present, the methods generally used to detect α-thalassemia mutations are confined to detecting common mutations, which may lead to misdiagnosis or missed diagnosis. The single-molecule real-time (SMRT) sequencing enables long-read single-molecule sequencing with high detection accuracy, and long-length DNA chain reads in high-fidelity read mode. This study aimed to identify novel large deletions...

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Source

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Identifiers

PMID: 37098594
DOI: 10.1186/s40246-023-00486-4
PMCID: PMC10127377

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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