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[Analysis of clinical phenotype and variant of RAG1 gene in a child with B-cell-negative Severe Combined Immunodeficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2023

Huang Juan, Guo Xiaofeng, Ji Wei

Abstract excerpt

OBJECTIVE: To report on a child with B-cell-negative severe combined immunodeficiency (B-SCID) manifesting as fulminant myocarditis and carry out genetic testing for her. METHODS: A child with B-SCID who presented at Fujian Maternity and Child Health Care Hospital on January 31, 2021 was selected as the subject. Whole exome sequencing was carried out for her. Candidate variant was verified by Sanger sequencing....

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PMID: 36709949
DOI: 10.3760/cma.j.cn511394-20220909-00614

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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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