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[Variant analysis of SEC23B gene in 4 families with congenital dyserythropoietic anemia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2021

Feng Yin, Shi Panlai, Liu Ning, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To identify the pathogenic variants of 4 patients with hemolytic anemia of unknown cause. METHODS: Peripheral blood samples of the patients and their family members were collected to extract DNA. The coding region and splice region in all exons of gene of erythrocyte related diseases were analyzed by using target sequence capture and high-throughput sequencing technology. Suspected pathogenic variants...

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Identifiers

PMID: 34365611
DOI: 10.3760/cma.j.cn511374-20200327-00211

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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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