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Updated: Jul 13, 2025

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
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高通量拼接试验识别了瘤综合征中的已知和新型WT1外9变体

Cathy Smith1,2, Bala Bharathi Burugula1, Ian Dunn1

  • 1Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA.

Kidney international reports
|October 18, 2023
PubMed
概括

弗雷泽综合征 (FS) 是一种罕见的病,由WT1基因拼接错误引起. 这项研究发现了影响WT1剪接的新变异,有助于诊断FS和相关疾病.

关键词:
弗雷泽综合症是什么?这就是WT1基因.性发展的差异性发展的差异.焦点细分型淋巴结核硬化迷你基因拼接试验鼻性综合征是什么意思

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