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Updated: Jun 23, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Published on: April 4, 2018

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在巴西患者中,错误地将PMS2CL伪基的频繁变体归类为PMS2功能丧失变体

Anthony Vladimir Campos Segura1, Sara Iolanda Oliveira da Silva1, Karina Miranda Santiago1

  • 1Clinical and Functional Genomics Group, International Research Center/CIPE, A.C.Camargo Cancer Center, 440 Taguá St, São Paulo, SP, 01508-010, Brazil.

Familial cancer
|June 20, 2024
PubMed
概括

在基因测试中,PMS2CL伪基因的一个常见变异经常被误认为是PMS2基因突变. 这种错误分类影响了林奇综合征的诊断,并强调了需要准确的遗传检测方法的需要.

关键词:
在PMS2中使用PMS2.这就是PMS2CL.发生冲突的变体.多基因面板是多基因面板.伪造的人物 伪造人

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