Meral Gavaz1, Elif S Aslan1, Selahattin Tekeş2

  • 1Department of Molecular and Medical Genetics, Biruni University, Istanbul, Turkey.

Journal of neurogenetics
|December 10, 2024
PubMed
概括

全外体测序 (WES) 成功诊断了30%的儿科病例,识别了已知的和新的突变. 这种基因测试方法有助于诊断罕见的儿童,并发现新的候选基因.

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