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Updated: Sep 9, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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没有解释的肝病成年人的外体测序:诊断产量和临床影响

Kenan Moral1, Gülsüm Kayhan2, Tarik Duzenli2

  • 1Division of Gastroenterology and Hepatology, Department of Internal Medicine, Gazi University, Ankara 06560, Turkey.

Diagnostics (Basel, Switzerland)
|August 28, 2025
PubMed
概括

整体外基因测序 (WES) 成功地确定了11%的成年肝病患者的遗传原因,包括关键基因和马赛克特纳综合征的罕见变异,改善了诊断.

关键词:
异构体测序分析肝病学中的基因组学罕见的肝脏疾病没有确诊的肝病

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