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Updated: Jun 21, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

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一种精确的细胞测试,以确定林奇综合征基因中编码和非编码变异的致病性

Iris E Glykofridis1, Marleen Dekker1, Chantal Stoepker1

  • 1Division of Tumor Biology and Immunology, The Netherlands Cancer Institute, Amsterdam 1066 CX, The Netherlands.

Proceedings of the National Academy of Sciences of the United States of America
|January 16, 2026
PubMed
概括

林奇综合征的诊断得到了改进,这是一种新的测定方法,可以准确地对DNA不匹配修复基因中含有不确定意义的遗传变异进行分类. 这种功能测试有助于针对受影响家庭进行个性化癌症监测.

关键词:
修复DNA不匹配的修复林奇综合征是什么? 林奇综合征是什么?这就是VUS VUS VUS.功能性检测试验的测试.

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation07:15

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