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[Analysis of NF1 gene variants among thirteen patients with neurofibromatosis type 1].

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

Ge Lili, Zhang Yaodong, Liu Lei, Zheng Xuan, Chen Chongfen, Kong Jinghui

Abstract excerpt

OBJECTIVE: To detect variants of NF1 gene among thirteen patients with neurofibromatosis type 1. METHODS: Genomic DNA was extracted from peripheral blood samples of the patients. High-throughput sequencing was employed to detect potential variants of the NF1 and NF2 genes. RESULTS: Thirteen pathogenic variants were identified among the patients, which included one NF1 deletion, three missense variants, three...

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PMID: 34487523
DOI: 10.3760/cma.j.cn511374-20200410-00250

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