MSH6 sequence
收藏NIAID Data Ecosystem2026-03-13 收录
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资源简介：
One case exhibited MSI-H but no loss in the dMMR IHC. Results of the NGS analysis in this case showed that, as compared with the non-tumorous region, the CRC tumour specimen harbored three major somatic mutations: 15% alleles with MLH1 c.2040C>T silent mutation, 31% with PMS2 c.379G>A, which results in missense mutation Ala127Thr, and 40% with MSH6 c.3152delT mutation, which results in frameshift at Val1051 and premature translation termination.
创建时间：
2022-06-07
