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[Genetic analysis of a juvenile with maturity-onset diabetes of the young type 12].

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

Luo Yue, Jin Jiahui, Li Liyi, Wu Huiping, Shan Xiaoou

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a juvenile with maturity-onset diabetes of the young type 12(MODY12). METHODS: High-throughput sequencing was carried out to screen for the variants. Candidate variant was verified by Sanger sequencing. Pathogenity of the variant was predicted by searching the genetic databases and analysis by using bioinformatic software. RESULTS: Genetic testing indicated that the...

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PMID: 34487539
DOI: 10.3760/cma.j.cn511374-20200626-00476

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